@bgicli/bgicli 2.1.1 → 2.2.0

This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
Files changed (1266) hide show
  1. package/data/skills/aav-vector-design-agent/SKILL.md +198 -0
  2. package/data/skills/adaptyv/SKILL.md +112 -0
  3. package/data/skills/adhd-daily-planner/SKILL.md +271 -0
  4. package/data/skills/aeon/SKILL.md +372 -0
  5. package/data/skills/agent-browser/SKILL.md +159 -0
  6. package/data/skills/agentd-drug-discovery/SKILL.md +52 -0
  7. package/data/skills/ai-analyzer/SKILL.md +218 -0
  8. package/data/skills/alphafold/SKILL.md +183 -0
  9. package/data/skills/alphafold-database/SKILL.md +500 -0
  10. package/data/skills/anndata/SKILL.md +394 -0
  11. package/data/skills/antibody-design-agent/SKILL.md +64 -0
  12. package/data/skills/arboreto/SKILL.md +237 -0
  13. package/data/skills/armored-cart-design-agent/SKILL.md +225 -0
  14. package/data/skills/arxiv-search/SKILL.md +224 -0
  15. package/data/skills/autonomous-oncology-agent/SKILL.md +77 -0
  16. package/data/skills/bayesian-optimizer/SKILL.md +60 -0
  17. package/data/skills/benchling-integration/SKILL.md +473 -0
  18. package/data/skills/bgpt-paper-search/SKILL.md +81 -0
  19. package/data/skills/bindcraft/SKILL.md +198 -0
  20. package/data/skills/binder-design/SKILL.md +182 -0
  21. package/data/skills/binding-characterization/SKILL.md +234 -0
  22. package/data/skills/bindingdb-database/SKILL.md +332 -0
  23. package/data/skills/bio-admet-prediction/SKILL.md +224 -0
  24. package/data/skills/bio-alignment-files-bam-statistics/SKILL.md +340 -0
  25. package/data/skills/bio-alignment-filtering/SKILL.md +322 -0
  26. package/data/skills/bio-alignment-indexing/SKILL.md +249 -0
  27. package/data/skills/bio-alignment-io/SKILL.md +301 -0
  28. package/data/skills/bio-alignment-msa-parsing/SKILL.md +366 -0
  29. package/data/skills/bio-alignment-msa-statistics/SKILL.md +375 -0
  30. package/data/skills/bio-alignment-pairwise/SKILL.md +277 -0
  31. package/data/skills/bio-alignment-sorting/SKILL.md +296 -0
  32. package/data/skills/bio-alignment-validation/SKILL.md +374 -0
  33. package/data/skills/bio-atac-seq-atac-peak-calling/SKILL.md +221 -0
  34. package/data/skills/bio-atac-seq-atac-qc/SKILL.md +292 -0
  35. package/data/skills/bio-atac-seq-differential-accessibility/SKILL.md +268 -0
  36. package/data/skills/bio-atac-seq-footprinting/SKILL.md +256 -0
  37. package/data/skills/bio-atac-seq-motif-deviation/SKILL.md +319 -0
  38. package/data/skills/bio-atac-seq-nucleosome-positioning/SKILL.md +321 -0
  39. package/data/skills/bio-basecalling/SKILL.md +368 -0
  40. package/data/skills/bio-batch-downloads/SKILL.md +384 -0
  41. package/data/skills/bio-batch-processing/SKILL.md +303 -0
  42. package/data/skills/bio-bedgraph-handling/SKILL.md +336 -0
  43. package/data/skills/bio-blast-searches/SKILL.md +354 -0
  44. package/data/skills/bio-causal-genomics-colocalization-analysis/SKILL.md +264 -0
  45. package/data/skills/bio-causal-genomics-fine-mapping/SKILL.md +267 -0
  46. package/data/skills/bio-causal-genomics-mediation-analysis/SKILL.md +264 -0
  47. package/data/skills/bio-causal-genomics-mendelian-randomization/SKILL.md +221 -0
  48. package/data/skills/bio-causal-genomics-pleiotropy-detection/SKILL.md +292 -0
  49. package/data/skills/bio-cfdna-preprocessing/SKILL.md +200 -0
  50. package/data/skills/bio-chipseq-differential-binding/SKILL.md +262 -0
  51. package/data/skills/bio-chipseq-motif-analysis/SKILL.md +387 -0
  52. package/data/skills/bio-chipseq-peak-annotation/SKILL.md +239 -0
  53. package/data/skills/bio-chipseq-peak-calling/SKILL.md +277 -0
  54. package/data/skills/bio-chipseq-qc/SKILL.md +391 -0
  55. package/data/skills/bio-chipseq-super-enhancers/SKILL.md +288 -0
  56. package/data/skills/bio-chipseq-visualization/SKILL.md +289 -0
  57. package/data/skills/bio-clinical-databases-clinvar-lookup/SKILL.md +188 -0
  58. package/data/skills/bio-clinical-databases-dbsnp-queries/SKILL.md +171 -0
  59. package/data/skills/bio-clinical-databases-gnomad-frequencies/SKILL.md +205 -0
  60. package/data/skills/bio-clinical-databases-hla-typing/SKILL.md +248 -0
  61. package/data/skills/bio-clinical-databases-myvariant-queries/SKILL.md +174 -0
  62. package/data/skills/bio-clinical-databases-pharmacogenomics/SKILL.md +232 -0
  63. package/data/skills/bio-clinical-databases-polygenic-risk/SKILL.md +276 -0
  64. package/data/skills/bio-clinical-databases-somatic-signatures/SKILL.md +261 -0
  65. package/data/skills/bio-clinical-databases-tumor-mutational-burden/SKILL.md +301 -0
  66. package/data/skills/bio-clinical-databases-variant-prioritization/SKILL.md +225 -0
  67. package/data/skills/bio-clip-seq-binding-site-annotation/SKILL.md +66 -0
  68. package/data/skills/bio-clip-seq-clip-alignment/SKILL.md +70 -0
  69. package/data/skills/bio-clip-seq-clip-motif-analysis/SKILL.md +62 -0
  70. package/data/skills/bio-clip-seq-clip-peak-calling/SKILL.md +282 -0
  71. package/data/skills/bio-clip-seq-clip-preprocessing/SKILL.md +142 -0
  72. package/data/skills/bio-codon-usage/SKILL.md +353 -0
  73. package/data/skills/bio-comparative-genomics-ancestral-reconstruction/SKILL.md +312 -0
  74. package/data/skills/bio-comparative-genomics-hgt-detection/SKILL.md +341 -0
  75. package/data/skills/bio-comparative-genomics-ortholog-inference/SKILL.md +308 -0
  76. package/data/skills/bio-comparative-genomics-positive-selection/SKILL.md +354 -0
  77. package/data/skills/bio-comparative-genomics-synteny-analysis/SKILL.md +315 -0
  78. package/data/skills/bio-compressed-files/SKILL.md +263 -0
  79. package/data/skills/bio-consensus-sequences/SKILL.md +340 -0
  80. package/data/skills/bio-copy-number-cnv-annotation/SKILL.md +307 -0
  81. package/data/skills/bio-copy-number-cnv-visualization/SKILL.md +294 -0
  82. package/data/skills/bio-copy-number-cnvkit-analysis/SKILL.md +290 -0
  83. package/data/skills/bio-copy-number-gatk-cnv/SKILL.md +270 -0
  84. package/data/skills/bio-crispr-screens-base-editing-analysis/SKILL.md +110 -0
  85. package/data/skills/bio-crispr-screens-batch-correction/SKILL.md +316 -0
  86. package/data/skills/bio-crispr-screens-crispresso-editing/SKILL.md +205 -0
  87. package/data/skills/bio-crispr-screens-hit-calling/SKILL.md +264 -0
  88. package/data/skills/bio-crispr-screens-jacks-analysis/SKILL.md +313 -0
  89. package/data/skills/bio-crispr-screens-library-design/SKILL.md +417 -0
  90. package/data/skills/bio-crispr-screens-mageck-analysis/SKILL.md +222 -0
  91. package/data/skills/bio-crispr-screens-screen-qc/SKILL.md +243 -0
  92. package/data/skills/bio-ctdna-mutation-detection/SKILL.md +234 -0
  93. package/data/skills/bio-data-visualization-circos-plots/SKILL.md +405 -0
  94. package/data/skills/bio-data-visualization-color-palettes/SKILL.md +244 -0
  95. package/data/skills/bio-data-visualization-genome-browser-tracks/SKILL.md +328 -0
  96. package/data/skills/bio-data-visualization-genome-tracks/SKILL.md +249 -0
  97. package/data/skills/bio-data-visualization-ggplot2-fundamentals/SKILL.md +313 -0
  98. package/data/skills/bio-data-visualization-heatmaps-clustering/SKILL.md +227 -0
  99. package/data/skills/bio-data-visualization-interactive-visualization/SKILL.md +210 -0
  100. package/data/skills/bio-data-visualization-multipanel-figures/SKILL.md +274 -0
  101. package/data/skills/bio-data-visualization-specialized-omics-plots/SKILL.md +251 -0
  102. package/data/skills/bio-data-visualization-upset-plots/SKILL.md +228 -0
  103. package/data/skills/bio-data-visualization-volcano-customization/SKILL.md +233 -0
  104. package/data/skills/bio-de-deseq2-basics/SKILL.md +376 -0
  105. package/data/skills/bio-de-edger-basics/SKILL.md +418 -0
  106. package/data/skills/bio-de-results/SKILL.md +378 -0
  107. package/data/skills/bio-de-visualization/SKILL.md +408 -0
  108. package/data/skills/bio-differential-expression-batch-correction/SKILL.md +253 -0
  109. package/data/skills/bio-differential-expression-timeseries-de/SKILL.md +370 -0
  110. package/data/skills/bio-differential-splicing/SKILL.md +177 -0
  111. package/data/skills/bio-duplicate-handling/SKILL.md +292 -0
  112. package/data/skills/bio-entrez-fetch/SKILL.md +334 -0
  113. package/data/skills/bio-entrez-link/SKILL.md +325 -0
  114. package/data/skills/bio-entrez-search/SKILL.md +311 -0
  115. package/data/skills/bio-epidemiological-genomics-amr-surveillance/SKILL.md +233 -0
  116. package/data/skills/bio-epidemiological-genomics-pathogen-typing/SKILL.md +202 -0
  117. package/data/skills/bio-epidemiological-genomics-phylodynamics/SKILL.md +207 -0
  118. package/data/skills/bio-epidemiological-genomics-transmission-inference/SKILL.md +237 -0
  119. package/data/skills/bio-epidemiological-genomics-variant-surveillance/SKILL.md +237 -0
  120. package/data/skills/bio-epitranscriptomics-m6a-differential/SKILL.md +88 -0
  121. package/data/skills/bio-epitranscriptomics-m6a-peak-calling/SKILL.md +89 -0
  122. package/data/skills/bio-epitranscriptomics-m6anet-analysis/SKILL.md +101 -0
  123. package/data/skills/bio-epitranscriptomics-merip-preprocessing/SKILL.md +81 -0
  124. package/data/skills/bio-epitranscriptomics-modification-visualization/SKILL.md +98 -0
  125. package/data/skills/bio-experimental-design-batch-design/SKILL.md +110 -0
  126. package/data/skills/bio-experimental-design-multiple-testing/SKILL.md +98 -0
  127. package/data/skills/bio-experimental-design-power-analysis/SKILL.md +84 -0
  128. package/data/skills/bio-experimental-design-sample-size/SKILL.md +93 -0
  129. package/data/skills/bio-expression-matrix-counts-ingest/SKILL.md +220 -0
  130. package/data/skills/bio-expression-matrix-gene-id-mapping/SKILL.md +256 -0
  131. package/data/skills/bio-expression-matrix-metadata-joins/SKILL.md +271 -0
  132. package/data/skills/bio-expression-matrix-sparse-handling/SKILL.md +247 -0
  133. package/data/skills/bio-fastq-quality/SKILL.md +279 -0
  134. package/data/skills/bio-filter-sequences/SKILL.md +265 -0
  135. package/data/skills/bio-flow-cytometry-bead-normalization/SKILL.md +315 -0
  136. package/data/skills/bio-flow-cytometry-clustering-phenotyping/SKILL.md +237 -0
  137. package/data/skills/bio-flow-cytometry-compensation-transformation/SKILL.md +196 -0
  138. package/data/skills/bio-flow-cytometry-cytometry-qc/SKILL.md +382 -0
  139. package/data/skills/bio-flow-cytometry-differential-analysis/SKILL.md +217 -0
  140. package/data/skills/bio-flow-cytometry-doublet-detection/SKILL.md +288 -0
  141. package/data/skills/bio-flow-cytometry-fcs-handling/SKILL.md +221 -0
  142. package/data/skills/bio-flow-cytometry-gating-analysis/SKILL.md +193 -0
  143. package/data/skills/bio-format-conversion/SKILL.md +193 -0
  144. package/data/skills/bio-fragment-analysis/SKILL.md +214 -0
  145. package/data/skills/bio-gatk-variant-calling/SKILL.md +422 -0
  146. package/data/skills/bio-genome-assembly-assembly-polishing/SKILL.md +333 -0
  147. package/data/skills/bio-genome-assembly-assembly-qc/SKILL.md +344 -0
  148. package/data/skills/bio-genome-assembly-contamination-detection/SKILL.md +235 -0
  149. package/data/skills/bio-genome-assembly-hifi-assembly/SKILL.md +178 -0
  150. package/data/skills/bio-genome-assembly-long-read-assembly/SKILL.md +307 -0
  151. package/data/skills/bio-genome-assembly-metagenome-assembly/SKILL.md +227 -0
  152. package/data/skills/bio-genome-assembly-scaffolding/SKILL.md +204 -0
  153. package/data/skills/bio-genome-assembly-short-read-assembly/SKILL.md +319 -0
  154. package/data/skills/bio-genome-engineering-base-editing-design/SKILL.md +277 -0
  155. package/data/skills/bio-genome-engineering-grna-design/SKILL.md +221 -0
  156. package/data/skills/bio-genome-engineering-hdr-template-design/SKILL.md +264 -0
  157. package/data/skills/bio-genome-engineering-off-target-prediction/SKILL.md +232 -0
  158. package/data/skills/bio-genome-engineering-prime-editing-design/SKILL.md +275 -0
  159. package/data/skills/bio-genome-intervals-bed-file-basics/SKILL.md +357 -0
  160. package/data/skills/bio-genome-intervals-bigwig-tracks/SKILL.md +351 -0
  161. package/data/skills/bio-genome-intervals-coverage-analysis/SKILL.md +300 -0
  162. package/data/skills/bio-genome-intervals-gtf-gff-handling/SKILL.md +345 -0
  163. package/data/skills/bio-genome-intervals-interval-arithmetic/SKILL.md +485 -0
  164. package/data/skills/bio-genome-intervals-proximity-operations/SKILL.md +337 -0
  165. package/data/skills/bio-geo-data/SKILL.md +380 -0
  166. package/data/skills/bio-hi-c-analysis-compartment-analysis/SKILL.md +261 -0
  167. package/data/skills/bio-hi-c-analysis-contact-pairs/SKILL.md +278 -0
  168. package/data/skills/bio-hi-c-analysis-hic-data-io/SKILL.md +260 -0
  169. package/data/skills/bio-hi-c-analysis-hic-differential/SKILL.md +328 -0
  170. package/data/skills/bio-hi-c-analysis-hic-visualization/SKILL.md +297 -0
  171. package/data/skills/bio-hi-c-analysis-loop-calling/SKILL.md +284 -0
  172. package/data/skills/bio-hi-c-analysis-matrix-operations/SKILL.md +274 -0
  173. package/data/skills/bio-hi-c-analysis-tad-detection/SKILL.md +239 -0
  174. package/data/skills/bio-imaging-mass-cytometry-cell-segmentation/SKILL.md +241 -0
  175. package/data/skills/bio-imaging-mass-cytometry-data-preprocessing/SKILL.md +279 -0
  176. package/data/skills/bio-imaging-mass-cytometry-interactive-annotation/SKILL.md +304 -0
  177. package/data/skills/bio-imaging-mass-cytometry-phenotyping/SKILL.md +231 -0
  178. package/data/skills/bio-imaging-mass-cytometry-quality-metrics/SKILL.md +316 -0
  179. package/data/skills/bio-imaging-mass-cytometry-spatial-analysis/SKILL.md +246 -0
  180. package/data/skills/bio-immunoinformatics-epitope-prediction/SKILL.md +259 -0
  181. package/data/skills/bio-immunoinformatics-immunogenicity-scoring/SKILL.md +275 -0
  182. package/data/skills/bio-immunoinformatics-mhc-binding-prediction/SKILL.md +260 -0
  183. package/data/skills/bio-immunoinformatics-neoantigen-prediction/SKILL.md +277 -0
  184. package/data/skills/bio-immunoinformatics-tcr-epitope-binding/SKILL.md +257 -0
  185. package/data/skills/bio-isoform-switching/SKILL.md +192 -0
  186. package/data/skills/bio-liquid-biopsy-pipeline/SKILL.md +311 -0
  187. package/data/skills/bio-local-blast/SKILL.md +350 -0
  188. package/data/skills/bio-long-read-sequencing-clair3-variants/SKILL.md +252 -0
  189. package/data/skills/bio-long-read-sequencing-isoseq-analysis/SKILL.md +334 -0
  190. package/data/skills/bio-long-read-sequencing-nanopore-methylation/SKILL.md +110 -0
  191. package/data/skills/bio-longitudinal-monitoring/SKILL.md +271 -0
  192. package/data/skills/bio-longread-alignment/SKILL.md +193 -0
  193. package/data/skills/bio-longread-medaka/SKILL.md +176 -0
  194. package/data/skills/bio-longread-qc/SKILL.md +224 -0
  195. package/data/skills/bio-longread-structural-variants/SKILL.md +201 -0
  196. package/data/skills/bio-machine-learning-atlas-mapping/SKILL.md +139 -0
  197. package/data/skills/bio-machine-learning-biomarker-discovery/SKILL.md +157 -0
  198. package/data/skills/bio-machine-learning-model-validation/SKILL.md +148 -0
  199. package/data/skills/bio-machine-learning-omics-classifiers/SKILL.md +146 -0
  200. package/data/skills/bio-machine-learning-prediction-explanation/SKILL.md +162 -0
  201. package/data/skills/bio-machine-learning-survival-analysis/SKILL.md +176 -0
  202. package/data/skills/bio-metabolomics-lipidomics/SKILL.md +265 -0
  203. package/data/skills/bio-metabolomics-metabolite-annotation/SKILL.md +241 -0
  204. package/data/skills/bio-metabolomics-msdial-preprocessing/SKILL.md +308 -0
  205. package/data/skills/bio-metabolomics-normalization-qc/SKILL.md +283 -0
  206. package/data/skills/bio-metabolomics-pathway-mapping/SKILL.md +237 -0
  207. package/data/skills/bio-metabolomics-statistical-analysis/SKILL.md +276 -0
  208. package/data/skills/bio-metabolomics-targeted-analysis/SKILL.md +314 -0
  209. package/data/skills/bio-metabolomics-xcms-preprocessing/SKILL.md +268 -0
  210. package/data/skills/bio-metagenomics-abundance/SKILL.md +203 -0
  211. package/data/skills/bio-metagenomics-amr-detection/SKILL.md +293 -0
  212. package/data/skills/bio-metagenomics-functional-profiling/SKILL.md +252 -0
  213. package/data/skills/bio-metagenomics-kraken/SKILL.md +204 -0
  214. package/data/skills/bio-metagenomics-metaphlan/SKILL.md +214 -0
  215. package/data/skills/bio-metagenomics-strain-tracking/SKILL.md +292 -0
  216. package/data/skills/bio-metagenomics-visualization/SKILL.md +240 -0
  217. package/data/skills/bio-methylation-based-detection/SKILL.md +223 -0
  218. package/data/skills/bio-methylation-bismark-alignment/SKILL.md +195 -0
  219. package/data/skills/bio-methylation-calling/SKILL.md +200 -0
  220. package/data/skills/bio-methylation-dmr-detection/SKILL.md +211 -0
  221. package/data/skills/bio-methylation-methylkit/SKILL.md +219 -0
  222. package/data/skills/bio-microbiome-amplicon-processing/SKILL.md +137 -0
  223. package/data/skills/bio-microbiome-differential-abundance/SKILL.md +147 -0
  224. package/data/skills/bio-microbiome-diversity-analysis/SKILL.md +188 -0
  225. package/data/skills/bio-microbiome-functional-prediction/SKILL.md +153 -0
  226. package/data/skills/bio-microbiome-qiime2-workflow/SKILL.md +219 -0
  227. package/data/skills/bio-microbiome-taxonomy-assignment/SKILL.md +168 -0
  228. package/data/skills/bio-molecular-descriptors/SKILL.md +200 -0
  229. package/data/skills/bio-molecular-io/SKILL.md +188 -0
  230. package/data/skills/bio-motif-search/SKILL.md +354 -0
  231. package/data/skills/bio-multi-omics-data-harmonization/SKILL.md +228 -0
  232. package/data/skills/bio-multi-omics-mixomics-analysis/SKILL.md +221 -0
  233. package/data/skills/bio-multi-omics-mofa-integration/SKILL.md +225 -0
  234. package/data/skills/bio-multi-omics-similarity-network/SKILL.md +235 -0
  235. package/data/skills/bio-orchestrator/SKILL.md +133 -0
  236. package/data/skills/bio-paired-end-fastq/SKILL.md +334 -0
  237. package/data/skills/bio-pathway-enrichment-visualization/SKILL.md +278 -0
  238. package/data/skills/bio-pathway-go-enrichment/SKILL.md +218 -0
  239. package/data/skills/bio-pathway-gsea/SKILL.md +227 -0
  240. package/data/skills/bio-pathway-kegg-pathways/SKILL.md +234 -0
  241. package/data/skills/bio-pathway-reactome/SKILL.md +215 -0
  242. package/data/skills/bio-pathway-wikipathways/SKILL.md +255 -0
  243. package/data/skills/bio-pdb-geometric-analysis/SKILL.md +475 -0
  244. package/data/skills/bio-pdb-structure-io/SKILL.md +296 -0
  245. package/data/skills/bio-pdb-structure-modification/SKILL.md +448 -0
  246. package/data/skills/bio-pdb-structure-navigation/SKILL.md +335 -0
  247. package/data/skills/bio-phasing-imputation-genotype-imputation/SKILL.md +201 -0
  248. package/data/skills/bio-phasing-imputation-haplotype-phasing/SKILL.md +190 -0
  249. package/data/skills/bio-phasing-imputation-imputation-qc/SKILL.md +265 -0
  250. package/data/skills/bio-phasing-imputation-reference-panels/SKILL.md +203 -0
  251. package/data/skills/bio-phylo-distance-calculations/SKILL.md +307 -0
  252. package/data/skills/bio-phylo-modern-tree-inference/SKILL.md +274 -0
  253. package/data/skills/bio-phylo-tree-io/SKILL.md +252 -0
  254. package/data/skills/bio-phylo-tree-manipulation/SKILL.md +375 -0
  255. package/data/skills/bio-phylo-tree-visualization/SKILL.md +275 -0
  256. package/data/skills/bio-pileup-generation/SKILL.md +314 -0
  257. package/data/skills/bio-population-genetics-association-testing/SKILL.md +293 -0
  258. package/data/skills/bio-population-genetics-linkage-disequilibrium/SKILL.md +260 -0
  259. package/data/skills/bio-population-genetics-plink-basics/SKILL.md +338 -0
  260. package/data/skills/bio-population-genetics-population-structure/SKILL.md +352 -0
  261. package/data/skills/bio-population-genetics-scikit-allel-analysis/SKILL.md +306 -0
  262. package/data/skills/bio-population-genetics-selection-statistics/SKILL.md +251 -0
  263. package/data/skills/bio-primer-design-primer-basics/SKILL.md +289 -0
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+ ---
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+ name: literature-search
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+ description: Comprehensive scientific literature search across PubMed, arXiv, bioRxiv, medRxiv. Natural language queries powered by Valyu semantic search.
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+ keywords:
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+ - literature-search
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+ - scientific-literature
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+ - multi-source-search
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+ - comprehensive-search
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+ - research-aggregation
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+ - semantic-search
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+ license: MIT
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+ ---
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+
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+
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+ # Literature Search
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+
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+ Search across all major scientific literature databases (PubMed, arXiv, bioRxiv, medRxiv) simultaneously using natural language queries powered by Valyu's semantic search API.
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+
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+ ## Why This Skill is Powerful
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+
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+ - **No API Parameter Parsing**: Just pass natural language queries directly - no need to construct complex search parameters
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+ - **Semantic Search**: Understands the meaning of your query, not just keyword matching
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+ - **Full-Text Access**: Returns complete article content, not just abstracts
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+ - **Image Links**: Includes figures and images from papers
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+ - **Comprehensive Coverage**: Search across PubMed, arXiv, bioRxiv, and medRxiv simultaneously
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+ - **Unified Results**: Get results from all sources in a single query
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+
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+ ## Requirements
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+
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+ 1. Node.js 18+ (uses built-in fetch)
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+ 2. Valyu API key from https://platform.valyu.ai ($10 free credits)
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+
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+ ## CRITICAL: Script Path Resolution
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+
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+ The `scripts/search` commands in this documentation are relative to this skill's installation directory.
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+
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+ Before running any command, locate the script using:
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+
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+ ```bash
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+ LITERATURE_SCRIPT=$(find ~/.claude/plugins/cache -name "search" -path "*/literature-search/*/scripts/*" -type f 2>/dev/null | head -1)
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+ ```
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+
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+ Then use the full path for all commands:
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+ ```bash
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+ $LITERATURE_SCRIPT "CRISPR gene editing advances" 15
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+ ```
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+
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+ ## API Key Setup Flow
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+
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+ When you run a search and receive `"setup_required": true`, follow this flow:
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+
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+ 1. **Ask the user for their API key:**
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+ "To search scientific literature, I need your Valyu API key. Get one free ($10 credits) at https://platform.valyu.ai"
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+
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+ 2. **Once the user provides the key, run:**
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+ ```bash
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+ scripts/search setup <api-key>
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+ ```
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+
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+ 3. **Retry the original search.**
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+
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+ ## When to Use This Skill
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+
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+ - Comprehensive literature reviews across all domains
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+ - Finding all relevant research on a topic
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+ - Cross-domain scientific discovery
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+ - Combining biomedical, physics, and preprint literature
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+ - Emerging research across disciplines
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+ ## Output Format
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+
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+ ```json
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+ {
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+ "success": true,
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+ "type": "literature_search",
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+ "query": "CRISPR gene editing advances",
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+ "result_count": 15,
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+ "results": [
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+ {
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+ "title": "Article Title",
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+ "url": "https://...",
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+ "content": "Full article text with figures...",
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+ "source": "pubmed|arxiv|biorxiv|medrxiv",
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+ "relevance_score": 0.95,
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+ "images": ["https://example.com/figure1.jpg"]
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+ }
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+ ],
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+ "cost": 0.025
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+ }
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+ ```
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+
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+ ## Processing Results
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+
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+ ### With jq
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+
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+ ```bash
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+ # Get article titles
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+ scripts/search "query" 20 | jq -r '.results[].title'
98
+
99
+ # Get URLs
100
+ scripts/search "query" 20 | jq -r '.results[].url'
101
+
102
+ # Extract full content
103
+ scripts/search "query" 20 | jq -r '.results[].content'
104
+
105
+ # Filter by source
106
+ scripts/search "query" 20 | jq -r '.results[] | select(.source == "arxiv") | .title'
107
+ ```
108
+
109
+ ## Common Use Cases
110
+
111
+ ### Comprehensive Literature Review
112
+
113
+ ```bash
114
+ # Search across all sources for thorough review
115
+ scripts/search "mechanisms of cellular senescence" 100
116
+ ```
117
+
118
+ ### Cross-Disciplinary Research
119
+
120
+ ```bash
121
+ # Find papers spanning multiple fields
122
+ scripts/search "quantum computing applications in drug discovery" 50
123
+ ```
124
+
125
+ ### Recent Developments
126
+
127
+ ```bash
128
+ # Get latest preprints and publications
129
+ scripts/search "foundation models for protein folding" 30
130
+ ```
131
+
132
+ ### Medical Research
133
+
134
+ ```bash
135
+ # Search biomedical literature comprehensively
136
+ scripts/search "immunotherapy checkpoint inhibitors resistance" 40
137
+ ```
138
+
139
+
140
+ ## Error Handling
141
+
142
+ All commands return JSON with `success` field:
143
+
144
+ ```json
145
+ {
146
+ "success": false,
147
+ "error": "Error message"
148
+ }
149
+ ```
150
+
151
+ Exit codes:
152
+ - `0` - Success
153
+ - `1` - Error (check JSON for details)
154
+
155
+ ## API Endpoint
156
+
157
+ - Base URL: `https://api.valyu.ai/v1`
158
+ - Endpoint: `/search`
159
+ - Authentication: X-API-Key header
160
+
161
+ ## Architecture
162
+
163
+ ```
164
+ scripts/
165
+ ├── search # Bash wrapper
166
+ └── search.mjs # Node.js CLI
167
+ ```
168
+
169
+ Direct API calls using Node.js built-in `fetch()`, zero external dependencies.
170
+
171
+ ## Adding to Your Project
172
+
173
+ If you're building an AI project and want to integrate Literature Search directly into your application, use the Valyu SDK:
174
+
175
+ ### Python Integration
176
+
177
+ ```python
178
+ from valyu import Valyu
179
+
180
+ client = Valyu(api_key="your-api-key")
181
+
182
+ response = client.search(
183
+ query="your search query here",
184
+ included_sources=["valyu/valyu-pubmed", "valyu/valyu-arxiv", "valyu/valyu-biorxiv", "valyu/valyu-medrxiv"],
185
+ max_results=20
186
+ )
187
+
188
+ for result in response["results"]:
189
+ print(f"Title: {result['title']}")
190
+ print(f"URL: {result['url']}")
191
+ print(f"Content: {result['content'][:500]}...")
192
+ ```
193
+
194
+ ### TypeScript Integration
195
+
196
+ ```typescript
197
+ import { Valyu } from "valyu-js";
198
+
199
+ const client = new Valyu("your-api-key");
200
+
201
+ const response = await client.search({
202
+ query: "your search query here",
203
+ includedSources: ["valyu/valyu-pubmed", "valyu/valyu-arxiv", "valyu/valyu-biorxiv", "valyu/valyu-medrxiv"],
204
+ maxResults: 20
205
+ });
206
+
207
+ response.results.forEach((result) => {
208
+ console.log(`Title: ${result.title}`);
209
+ console.log(`URL: ${result.url}`);
210
+ console.log(`Content: ${result.content.substring(0, 500)}...`);
211
+ });
212
+ ```
213
+
214
+ See the [Valyu docs](https://docs.valyu.ai) for full integration examples and SDK reference.
@@ -0,0 +1,305 @@
1
+ ---
2
+ name: lobster-bioinformatics
3
+ description: Run bioinformatics analyses using Lobster AI - single-cell RNA-seq, bulk RNA-seq, literature mining, dataset discovery, quality control, and visualization. Use when analyzing genomics data, searching for papers/datasets, or working with H5AD, CSV, GEO/SRA accessions, or biological data. Requires lobster-ai package installed.
4
+ ---
5
+
6
+ # Lobster Bioinformatics Agent
7
+
8
+ Lobster AI is a bioinformatics platform that combines specialized AI agents with open-source tools to analyze multi-omics data through natural language.
9
+
10
+ ## When to use this Skill
11
+
12
+ Use Lobster when the user asks to:
13
+ - Analyze single-cell RNA-seq data (QC, clustering, annotation, markers)
14
+ - Perform bulk RNA-seq analysis (differential expression, complex designs)
15
+ - Search scientific literature (PubMed, PMC, full-text retrieval)
16
+ - Discover datasets (GEO, SRA, ENA (free) and PRIDE, MASSive (cloud))
17
+ - Run quality control on biological data
18
+ - Generate bioinformatics visualizations (UMAP, volcano plots, heatmaps)
19
+ - Download and process biological datasets
20
+ - Work with H5AD, CSV, Excel, 10X formats
21
+ - Extract methods or metadata from papers
22
+
23
+ ## Requirements
24
+
25
+ Lobster must be installed and configured:
26
+
27
+ ```bash
28
+ # Check if Lobster is installed
29
+ which lobster
30
+
31
+ # If not installed:
32
+ uv pip install lobster-ai
33
+ lobster init --help #to see non-interactive
34
+ ```
35
+
36
+ Lobster requires an LLM provider (Ollama, Anthropic, or AWS Bedrock).
37
+
38
+ ## Pre-flight check (IMPORTANT)
39
+
40
+ **Before running any analysis, always verify Lobster is ready:**
41
+ ```bash
42
+ lobster config-test --json
43
+ ```
44
+
45
+ Returns structured JSON:
46
+ ```json
47
+ {
48
+ "valid": true,
49
+ "env_file": "/path/to/.env",
50
+ "checks": {
51
+ "llm_provider": {"status": "pass", "provider": "bedrock", "message": "Connected"},
52
+ "ncbi_api": {"status": "pass", "has_key": true, "message": "Connected"},
53
+ "workspace": {"status": "pass", "path": "/path/to/workspace", "message": "Writable"}
54
+ }
55
+ }
56
+ ```
57
+
58
+ This command validates:
59
+ - **LLM provider** - Ollama server running + models installed, or Anthropic/Bedrock API keys valid
60
+ - **NCBI API** - PubMed/GEO access (optional but recommended)
61
+ - **Workspace** - Directory writable for output files
62
+
63
+ **Expected output for a working setup:**
64
+ ```
65
+ ✅ LLM Provider: bedrock (connected)
66
+ ✅ NCBI API: Connected (with API key)
67
+ ✅ Workspace: Writable
68
+ ✅ Configuration Valid
69
+ ```
70
+
71
+ **If config-test fails:**
72
+
73
+ | Error | Solution |
74
+ |-------|----------|
75
+ | No LLM provider configured | Run `lobster init` |
76
+ | Ollama server not accessible | Start Ollama: `ollama serve` |
77
+ | Ollama: No models installed | After asking user - Install a model: `ollama pull gpt-oss:20b` |
78
+ | Anthropic/Bedrock API error | Check API key validity in `.env` |
79
+ | NCBI API not configured | Add `NCBI_API_KEY` to `.env` (optional) |
80
+ | Workspace not writable | Check directory permissions |
81
+
82
+ **Quick status checks:**
83
+ ```bash
84
+ # Show configuration values (masked)
85
+ lobster config-show
86
+
87
+ # Show subscription tier and available agents
88
+ lobster status
89
+ ```
90
+
91
+ ## Usage
92
+
93
+ ### Basic syntax
94
+
95
+ ```bash
96
+ # Single query (non-interactive)
97
+ lobster query "<natural language request>"
98
+
99
+ # With custom workspace
100
+ lobster query --workspace /path/to/workspace "<request>"
101
+
102
+ # With reasoning mode (for complex tasks)
103
+ lobster query --reasoning "<request>"
104
+ ```
105
+
106
+ ### Session continuity (multi-turn conversations)
107
+
108
+ Lobster supports conversation continuity via `--session-id`, enabling follow-up questions that reference previous context either by setting sessin-id to latest or a string of your choice:
109
+
110
+ ```bash
111
+ # default session
112
+ lobster query "Search PubMed for CRISPR papers"
113
+ # Output: Session: session_20241208_150000 (use --session-id latest for follow-ups)
114
+ # then follow up with
115
+ lobster query --session-id latest "Download the first dataset from that search"
116
+
117
+ #or use custom session id
118
+ lobster query --session-id "crispr_search_1" "Search PubMed for CRISPR papers"
119
+ #follow up with
120
+ lobster query --session-id "crispr_search_1" "show me metadata from the first paper"
121
+ ```
122
+
123
+ **Best practices:**
124
+ - Always use `--session-id latest` for follow-up queries
125
+ - Session files are saved in workspace as `session_*.json`
126
+ - Use same `--workspace` for related queries to maintain context
127
+ - Session contains conversation history, not tool execution state
128
+
129
+ **Workspace-based sessions:**
130
+ ```bash
131
+ # Project 1: Cancer research
132
+ lobster query --workspace ~/cancer-project "Search for breast cancer datasets"
133
+ lobster query --workspace ~/cancer-project --session-id latest "Download the best one"
134
+
135
+ # Project 2: Immunology (separate session)
136
+ lobster query --workspace ~/immuno-project "Search for T cell datasets"
137
+ lobster query --workspace ~/immuno-project --session-id latest "Analyze that"
138
+ ```
139
+
140
+ ### Common patterns
141
+
142
+ **Single-cell analysis:**
143
+ ```bash
144
+ lobster query "Download GSE109564 and perform quality control"
145
+ lobster query "Cluster the dataset and find marker genes"
146
+ lobster query "Create UMAP visualization colored by cell type"
147
+ ```
148
+
149
+ **Literature mining:**
150
+ ```bash
151
+ lobster query "Search PubMed for CRISPR screens in cancer"
152
+ lobster query "Find papers about CAR-T therapy and extract their GEO datasets"
153
+ lobster query "Get the full text and methods section for PMID:12345678"
154
+ ```
155
+
156
+ **Dataset discovery:**
157
+ ```bash
158
+ lobster query "Search GEO for single-cell pancreatic beta cell datasets"
159
+ lobster query "Validate GSE200997 metadata for required fields: cell_type, tissue"
160
+ lobster query "Download SRA dataset SRP123456"
161
+ ```
162
+
163
+ **Data analysis:**
164
+ ```bash
165
+ lobster query "Load counts.csv and run differential expression analysis"
166
+ lobster query "Perform batch correction on the loaded dataset"
167
+ lobster query "Generate volcano plot for DE results"
168
+ ```
169
+
170
+ **Quality control:**
171
+ ```bash
172
+ lobster query "Assess quality metrics for the loaded dataset"
173
+ lobster query "Filter cells with <200 genes or >8000 genes"
174
+ lobster query "Identify doublets using scrublet"
175
+ ```
176
+
177
+ ## Output handling
178
+
179
+ Lobster outputs are saved in the workspace directory (default: `.lobster_workspace/`):
180
+
181
+ **Key files to check:**
182
+ - `*.h5ad` - Processed datasets (AnnData format)
183
+ - `*.html` - Interactive visualizations
184
+ - `*.png` - Static plots for publications
185
+ - `*.csv` - Exported data tables
186
+ - `*.json` - Metadata and provenance
187
+
188
+ **To read results:**
189
+ ```bash
190
+ # List workspace files
191
+ ls -lh .lobster_workspace/
192
+
193
+ # Read specific outputs
194
+ cat .lobster_workspace/analysis_summary.json
195
+ ```
196
+
197
+ ## Integration workflow
198
+
199
+ **Example 1: Analyze dataset and extract results**
200
+
201
+ ```bash
202
+ # Step 1: Run analysis
203
+ lobster query --session-id "gse109564" "Download GSE109564, run QC, and cluster cells"
204
+
205
+ # Step 2: Check outputs
206
+ ls .lobster_workspace/*.h5ad
207
+ ls .lobster_workspace/*.html
208
+
209
+ # Step 3: Extract specific data
210
+ lobster query --session-id "gse109564" "Export cluster markers to CSV"
211
+
212
+ # Step 4: Use results in your code
213
+ # Results are now in .lobster_workspace/markers.csv
214
+ ```
215
+
216
+ **Example 2: Literature mining workflow**
217
+
218
+ ```bash
219
+ # Step 1: Find papers
220
+ lobster query "Search for papers about immune checkpoint inhibitors in melanoma"
221
+
222
+ # Step 2: Extract datasets
223
+ lobster query "Extract all GEO dataset IDs from the cached papers"
224
+
225
+ # Step 3: Validate datasets
226
+ lobster query "Check which datasets have cell_type and treatment metadata"
227
+
228
+ # Step 4: Download best match
229
+ lobster query "Download the dataset with most samples"
230
+ ```
231
+
232
+ ## Advanced features
233
+
234
+ **Export reproducible notebooks:**
235
+ ```bash
236
+ lobster query "Export the analysis pipeline as a Jupyter notebook"
237
+ # Creates a Papermill-compatible notebook in workspace
238
+ ```
239
+
240
+ **Workspace management:**
241
+ ```bash
242
+ # Use custom workspace per project
243
+ lobster query --workspace ./project1-data "Analyze counts.csv"
244
+ lobster query --workspace ./project2-data "Analyze other-counts.csv"
245
+ ```
246
+
247
+ **Provider switching (if multiple LLM providers configured):**
248
+ ```bash
249
+ # Use specific provider
250
+ lobster query --provider ollama "Run expensive analysis" # Free local
251
+ lobster query --provider anthropic "Quick task" # Fast cloud
252
+ ```
253
+
254
+ ## Troubleshooting
255
+
256
+ **Command not found:**
257
+ - Verify installation: `which lobster`
258
+ - Install: `uv pip install lobster-ai`
259
+ - Configure: `lobster init`
260
+
261
+ **Rate limit errors:**
262
+ - Using Anthropic? Switch to Ollama (free) or AWS Bedrock (enterprise)
263
+ - Wait 60 seconds and retry
264
+ - Configure Ollama: `ollama pull llama3:8b-instruct && export LOBSTER_LLM_PROVIDER=ollama`
265
+
266
+ **Analysis errors:**
267
+ - Check workspace: `ls .lobster_workspace/`
268
+ - View session log: `cat ~/.lobster/.session.json`
269
+ - Try with reasoning: `lobster query --reasoning "<request>"`
270
+
271
+ **No output files:**
272
+ - Verify workspace location: `lobster query "show workspace info"`
273
+ - Check for errors in command output
274
+ - Ensure request was analysis (not just information retrieval)
275
+
276
+ ## Tips for effective use
277
+
278
+ 1. **Be specific:** Instead of "analyze data", say "perform single-cell clustering with resolution 0.5"
279
+ 2. **Chain operations:** "Download GSE12345, run QC, cluster, and export markers to CSV"
280
+ 3. **Check outputs:** Always verify generated files in `.lobster_workspace/`
281
+ 4. **Use reasoning mode:** For complex multi-step tasks, add `--reasoning` flag
282
+ 5. **Provide context:** Reference specific files, datasets, or previous results
283
+
284
+ ## Limitations
285
+
286
+ - Lobster requires active LLM provider (Ollama/Anthropic/Bedrock)
287
+ - Large datasets (>100K cells) may be slow depending on system resources
288
+ - Some features require premium subscription (proteomics, metadata assistant)
289
+ - Full-text paper access limited by journal availability
290
+ - Rate limits apply when using cloud LLM providers
291
+
292
+ ## Documentation
293
+
294
+ - Wiki: https://github.com/the-omics-os/lobster-local/wiki
295
+ - Examples: https://github.com/the-omics-os/lobster-local/wiki/27-examples-cookbook
296
+ - Installation: https://github.com/the-omics-os/lobster-local/wiki/02-installation
297
+ - Configuration: https://github.com/the-omics-os/lobster-local/wiki/03-configuration
298
+
299
+ ## Version
300
+
301
+ This Skill is compatible with:
302
+ - Lobster AI v0.3.1.4+
303
+ - Claude Code v1.0+
304
+
305
+ For issues or questions: https://github.com/the-omics-os/lobster-local/issues
@@ -0,0 +1,181 @@
1
+ <!--
2
+ # COPYRIGHT NOTICE
3
+ # This file is part of the "Universal Biomedical Skills" project.
4
+ # Copyright (c) 2026 MD BABU MIA, PhD <md.babu.mia@mssm.edu>
5
+ # All Rights Reserved.
6
+ #
7
+ # This code is proprietary and confidential.
8
+ # Unauthorized copying of this file, via any medium is strictly prohibited.
9
+ #
10
+ # Provenance: Authenticated by MD BABU MIA
11
+
12
+ -->
13
+
14
+ ---
15
+ name: 'long-read-sequencing-agent'
16
+ description: 'AI-powered analysis of long-read sequencing data (PacBio, ONT) for structural variant detection, isoform discovery, epigenetic modifications, and de novo assembly.'
17
+ measurable_outcome: Execute skill workflow successfully with valid output within 15 minutes.
18
+ allowed-tools:
19
+ - read_file
20
+ - run_shell_command
21
+ ---
22
+
23
+
24
+ # Long-Read Sequencing Agent
25
+
26
+ The **Long-Read Sequencing Agent** provides comprehensive AI-driven analysis of long-read sequencing data from PacBio (HiFi) and Oxford Nanopore (ONT) platforms. It enables structural variant detection, full-length isoform discovery, base modification calling, and de novo genome assembly.
27
+
28
+ ## When to Use This Skill
29
+
30
+ * When detecting structural variants (SVs) missed by short-read sequencing.
31
+ * To characterize full-length transcript isoforms and alternative splicing.
32
+ * For detecting DNA base modifications (5mC, 6mA) directly from sequencing.
33
+ * When performing de novo genome assembly for complex regions.
34
+ * To phase variants and generate fully-resolved haplotypes.
35
+
36
+ ## Core Capabilities
37
+
38
+ 1. **Structural Variant Detection**: AI-enhanced SV calling for deletions, insertions, inversions, translocations, and complex rearrangements.
39
+
40
+ 2. **Isoform Discovery**: Full-length transcript sequencing for novel isoform and fusion detection.
41
+
42
+ 3. **Base Modification Calling**: Direct detection of DNA methylation (5mC, 5hmC, 6mA) from native sequencing.
43
+
44
+ 4. **Haplotype Phasing**: Phase-resolved assemblies and variant calling.
45
+
46
+ 5. **De Novo Assembly**: Assemble complex genomic regions (centromeres, telomeres, HLA).
47
+
48
+ 6. **Error Correction**: AI-based error correction for long-read data.
49
+
50
+ ## Platform Comparison
51
+
52
+ | Feature | PacBio HiFi | ONT (R10+) |
53
+ |---------|-------------|------------|
54
+ | Read length | 15-25 kb | >100 kb possible |
55
+ | Accuracy | >99.9% (HiFi) | >99% (Q20+) |
56
+ | Base mods | 5mC, 6mA | 5mC, 5hmC, 6mA, more |
57
+ | Throughput | 20-40 Gb/run | 100+ Gb/run |
58
+ | Cost | Higher | Lower |
59
+
60
+ ## Workflow
61
+
62
+ 1. **Input**: Long-read FASTQ/BAM files from PacBio or ONT sequencing.
63
+
64
+ 2. **QC & Alignment**: Filter reads by quality, align to reference genome.
65
+
66
+ 3. **SV Calling**: Detect structural variants using Sniffles, PBSV, or CuteSV.
67
+
68
+ 4. **Isoform Analysis**: Identify full-length isoforms with IsoSeq or FLAIR.
69
+
70
+ 5. **Modification Calling**: Extract base modifications from signal data.
71
+
72
+ 6. **Phasing**: Generate haplotype-resolved variant calls.
73
+
74
+ 7. **Output**: SV calls, isoform annotations, modification maps, phased assemblies.
75
+
76
+ ## Example Usage
77
+
78
+ **User**: "Analyze this PacBio HiFi dataset for structural variants and DNA methylation in a cancer sample."
79
+
80
+ **Agent Action**:
81
+ ```bash
82
+ python3 Skills/Genomics/Long_Read_Sequencing_Agent/longread_analyzer.py \
83
+ --input cancer_hifi.bam \
84
+ --platform pacbio_hifi \
85
+ --reference GRCh38.fa \
86
+ --sv_calling sniffles2 \
87
+ --methylation true \
88
+ --phasing true \
89
+ --output longread_results/
90
+ ```
91
+
92
+ ## Structural Variant Detection
93
+
94
+ | Tool | Platform | SV Types | Strengths |
95
+ |------|----------|----------|-----------|
96
+ | Sniffles2 | Both | All SV types | Speed, accuracy |
97
+ | PBSV | PacBio | All SV types | HiFi optimized |
98
+ | CuteSV | Both | All SV types | Sensitivity |
99
+ | SAVANA | Both | Somatic SVs | Cancer-specific |
100
+ | Jasmine | Both | Population SV | Multi-sample |
101
+
102
+ **SV Size Spectrum**:
103
+ - Small SVs: 50-500 bp (often missed by short-read)
104
+ - Medium SVs: 500 bp - 10 kb
105
+ - Large SVs: >10 kb
106
+ - Complex SVs: Multi-breakpoint events
107
+
108
+ ## Isoform Analysis
109
+
110
+ **Full-Length Transcript Sequencing**:
111
+ - Capture full gene structures (5' to 3')
112
+ - Detect novel exons and splice junctions
113
+ - Identify gene fusions
114
+ - Quantify isoform expression
115
+
116
+ **Tools**:
117
+ - IsoSeq3 (PacBio): Clustering and polishing
118
+ - FLAIR (Both): Isoform discovery and quantification
119
+ - StringTie2 (Both): Guided assembly
120
+ - SQANTI3: Isoform classification and QC
121
+
122
+ ## Base Modification Detection
123
+
124
+ | Modification | Detection | Biological Role |
125
+ |--------------|-----------|-----------------|
126
+ | 5mC | Both platforms | Gene silencing |
127
+ | 5hmC | ONT primarily | Active demethylation |
128
+ | 6mA | Both platforms | Bacterial/mitochondrial |
129
+ | BrdU | ONT | Replication timing |
130
+
131
+ **Resolution**: Single-base, single-molecule, strand-specific
132
+
133
+ ## AI/ML Components
134
+
135
+ **Error Correction**:
136
+ - DeepConsensus (PacBio): Transformer for HiFi calling
137
+ - Medaka (ONT): Neural network polishing
138
+ - PEPPER-Margin-DeepVariant: AI variant calling
139
+
140
+ **SV Classification**:
141
+ - Deep learning for complex SV characterization
142
+ - ML filters for false positive reduction
143
+ - Multi-sample joint calling
144
+
145
+ ## Clinical Applications
146
+
147
+ 1. **Cancer Genomics**: Detect SVs driving oncogene activation
148
+ 2. **Rare Disease**: Resolve variants in complex regions
149
+ 3. **Pharmacogenomics**: Phase CYP450 star alleles
150
+ 4. **HLA Typing**: Full-resolution typing for transplant
151
+ 5. **Repeat Expansions**: Size tandem repeat diseases
152
+
153
+ ## Prerequisites
154
+
155
+ * Python 3.10+
156
+ * Sniffles2, PBSV, CuteSV for SV calling
157
+ * minimap2/pbmm2 for alignment
158
+ * High-memory system (64GB+ recommended)
159
+
160
+ ## Related Skills
161
+
162
+ * Long_Read_SV_Caller - For specialized SV analysis
163
+ * Variant_Interpretation - For variant annotation
164
+ * Epigenomics_MethylGPT_Agent - For methylation analysis
165
+
166
+ ## Output Files
167
+
168
+ | Output | Format | Content |
169
+ |--------|--------|---------|
170
+ | SVs | VCF | Structural variants |
171
+ | Methylation | BED/bigWig | Modification calls |
172
+ | Isoforms | GTF | Transcript annotations |
173
+ | Phased | VCF | Haplotype-resolved variants |
174
+ | Assembly | FASTA | Assembled contigs |
175
+
176
+ ## Author
177
+
178
+ AI Group - Biomedical AI Platform
179
+
180
+
181
+ <!-- AUTHOR_SIGNATURE: 9a7f3c2e-MD-BABU-MIA-2026-MSSM-SECURE -->