cool-seq-tool 0.3.0.dev0__py3-none-any.whl → 0.4.0.dev0__py3-none-any.whl

cool_seq_tool/routers/mane.py

@@ -79,8 +79,8 @@ async def get_mane_data(
         mane_data = await cool_seq_tool.mane_transcript.get_mane_transcript(
             ac=ac,
             start_pos=start_pos,
-            start_annotation_layer=start_annotation_layer,
             end_pos=end_pos,
+            start_annotation_layer=start_annotation_layer,
             gene=gene,
             ref=ref,
             try_longest_compatible=try_longest_compatible,

cool_seq_tool/routers/mappings.py

@@ -57,7 +57,7 @@ async def p_to_c(
     "/c_to_g",
     summary="Translate cDNA representation to genomic representation",
     response_description=RESP_DESCR,
-    description="Given cDNA accession and positions for codon(s), return associated genomic"  # noqa: E501
+    description="Given cDNA accession and positions for codon(s), return associated genomic"
     " accession and positions for a given target genome assembly",
     response_model=ToGenomicService,
     tags=[Tags.ALIGNMENT_MAPPER],

cool_seq_tool/schemas.py

@@ -1,7 +1,7 @@
-"""Module for data models."""
+"""Defines attribute constants, useful object structures, and API response schemas."""
 import re
 from datetime import datetime
-from enum import Enum
+from enum import Enum, IntEnum
 from typing import List, Literal, Optional, Tuple, Union
 
 from pydantic import (
@@ -24,11 +24,11 @@ class AnnotationLayer(str, Enum):
     GENOMIC: Literal["g"] = "g"
 
 
-class Strand(str, Enum):
+class Strand(IntEnum):
     """Create enum for positive and negative strand"""
 
-    POSITIVE = "+"
-    NEGATIVE = "-"
+    POSITIVE = 1
+    NEGATIVE = -1
 
 
 class Assembly(str, Enum):
@@ -48,8 +48,15 @@ class TranscriptPriority(str, Enum):
 
 
 class ResidueMode(str, Enum):
-    """Create Enum for residue modes."""
+    """Create Enum for residue modes.
 
+                      |   | C |   | T |   | G |   |
+    ZERO              |   | 0 |   | 1 |   | 2 |   |
+    RESIDUE           |   | 1 |   | 2 |   | 3 |   |
+    INTER_RESIDUE     | 0 |   | 1 |   | 2 |   | 3 |
+    """
+
+    ZERO = "zero"
     RESIDUE = "residue"
     INTER_RESIDUE = "inter-residue"
 
@@ -64,14 +71,14 @@ class GenomicRequestBody(BaseModelForbidExtra):
     chromosome: Union[StrictStr, StrictInt]
     start: Optional[StrictInt] = None
     end: Optional[StrictInt] = None
-    strand: Optional[StrictInt] = None
+    strand: Optional[Strand] = None
     transcript: Optional[StrictStr] = None
     gene: Optional[StrictStr] = None
     residue_mode: ResidueMode = ResidueMode.RESIDUE
 
     @model_validator(mode="after")
     def check_start_and_end(cls, values):
-        """Check that at least one of {`start`, `end`} is set"""
+        """Check that at least one of {``start``, ``end``} is set"""
         msg = "Must provide either `start` or `end`"
         start, end = values.start, values.end
         assert start or end, msg
@@ -83,7 +90,7 @@ class GenomicRequestBody(BaseModelForbidExtra):
                 "chromosome": "NC_000001.11",
                 "start": 154192135,
                 "end": None,
-                "strand": -1,
+                "strand": Strand.NEGATIVE,
                 "transcript": "NM_152263.3",
                 "gene": "TPM3",
                 "residue_mode": "residue",
@@ -95,8 +102,8 @@ class GenomicRequestBody(BaseModelForbidExtra):
 class TranscriptRequestBody(BaseModelForbidExtra):
     """Define constraints for transcript exon to genomic coordinates request body"""
 
+    transcript: StrictStr
     gene: Optional[StrictStr] = None
-    transcript: Optional[StrictStr] = None
     exon_start: Optional[StrictInt] = None
     exon_start_offset: Optional[StrictInt] = 0
     exon_end: Optional[StrictInt] = None
@@ -104,7 +111,7 @@ class TranscriptRequestBody(BaseModelForbidExtra):
 
     @model_validator(mode="after")
     def check_exon_start_and_exon_end(cls, values):
-        """Check that at least one of {`exon_start`, `exon_end`} is set"""
+        """Check that at least one of {``exon_start``, ``exon_end``} is set"""
         msg = "Must provide either `exon_start` or `exon_end`"
         exon_start, exon_end = values.exon_start, values.exon_end
         assert exon_start or exon_end, msg
@@ -133,7 +140,7 @@ class TranscriptExonData(BaseModelForbidExtra):
     exon_offset: StrictInt = 0
     gene: StrictStr
     chr: StrictStr
-    strand: StrictInt
+    strand: Strand
 
     model_config = ConfigDict(
         json_schema_extra={
@@ -144,7 +151,7 @@ class TranscriptExonData(BaseModelForbidExtra):
                 "exon": 1,
                 "exon_offset": 0,
                 "transcript": "NM_152263.3",
-                "strand": -1,
+                "strand": Strand.NEGATIVE,
             }
         }
     )
@@ -162,13 +169,13 @@ class GenomicData(BaseModelForbidExtra):
     exon_end: Optional[StrictInt] = None
     exon_end_offset: Optional[StrictInt] = 0
     transcript: StrictStr
-    strand: StrictInt
+    strand: Strand
 
     @model_validator(mode="after")
     def check_start_end(cls, values):
-        """Check that at least one of {`start`, `end`} is set.
-        Check that at least one of {`exon_start`, `exon_end`} is set.
-        If not set, set corresponding offset to `None`
+        """Check that at least one of {``start``, ``end``} is set.
+        Check that at least one of {``exon_start``, ``exon_end``} is set.
+        If not set, set corresponding offset to ``None``
         """
         msg = "Missing values for `start` or `end`"
         start = values.start
@@ -200,7 +207,7 @@ class GenomicData(BaseModelForbidExtra):
                 "exon_start_offset": 0,
                 "exon_end_offset": None,
                 "transcript": "NM_152263.3",
-                "strand": -1,
+                "strand": Strand.NEGATIVE,
             }
         }
     )
@@ -254,7 +261,7 @@ class TranscriptExonDataResponse(BaseModelForbidExtra):
                     "exon": 1,
                     "exon_offset": 0,
                     "transcript": "NM_152263.3",
-                    "strand": -1,
+                    "strand": Strand.NEGATIVE,
                 },
                 "warnings": [],
                 "service_meta": {
@@ -288,7 +295,7 @@ class GenomicDataResponse(BaseModelForbidExtra):
                     "exon_start_offset": 0,
                     "exon_end_offset": None,
                     "transcript": "NM_152263.3",
-                    "strand": -1,
+                    "strand": Strand.NEGATIVE,
                 },
                 "warnings": [],
                 "service_meta": {
@@ -319,7 +326,7 @@ class MappedManeData(BaseModel):
                 "gene": "BRAF",
                 "refseq": "NM_001374258.1",
                 "ensembl": "ENST00000644969.2",
-                "strand": "-",
+                "strand": Strand.NEGATIVE,
                 "status": TranscriptPriority.MANE_PLUS_CLINICAL,
                 "alt_ac": "NC_000007.13",
                 "assembly": "GRCh37",
@@ -342,7 +349,7 @@ class MappedManeDataService(BaseModelForbidExtra):
                     "gene": "BRAF",
                     "refseq": "NM_001374258.1",
                     "ensembl": "ENST00000644969.2",
-                    "strand": "-",
+                    "strand": Strand.NEGATIVE,
                     "status": TranscriptPriority.MANE_PLUS_CLINICAL,
                     "alt_ac": "NC_000007.13",
                     "assembly": "GRCh37",
@@ -376,7 +383,7 @@ class ManeData(BaseModel):
                 "refseq": "NP_004324.2",
                 "ensembl": "ENSP00000493543.1",
                 "pos": (598, 598),
-                "strand": "-",
+                "strand": Strand.NEGATIVE,
                 "status": TranscriptPriority.MANE_SELECT,
             }
         }
@@ -398,7 +405,7 @@ class ManeDataService(BaseModelForbidExtra):
                     "refseq": "NP_004324.2",
                     "ensembl": "ENSP00000493543.1",
                     "pos": (598, 598),
-                    "strand": "-",
+                    "strand": Strand.NEGATIVE,
                     "status": TranscriptPriority.MANE_SELECT,
                 },
                 "warnings": [],

cool_seq_tool/sources/__init__.py

@@ -1,4 +1,6 @@
 """Module for providing basic acquisition/setup for the various resources"""
-from .mane_transcript_mappings import MANETranscriptMappings
+from .mane_transcript_mappings import ManeTranscriptMappings
 from .transcript_mappings import TranscriptMappings
-from .uta_database import UTADatabase
+from .uta_database import UtaDatabase
+
+__all__ = ["ManeTranscriptMappings", "TranscriptMappings", "UtaDatabase"]

cool_seq_tool/sources/mane_transcript_mappings.py

@@ -1,4 +1,6 @@
-"""The module for loading MANE Transcript mappings to genes."""
+"""Provide fast tabular access to MANE summary file. Enables retrieval of associated
+MANE transcripts for gene symbols, genomic positions, or transcript accessions.
+"""
 import logging
 from pathlib import Path
 from typing import Dict, List
@@ -10,11 +12,19 @@ from cool_seq_tool.paths import MANE_SUMMARY_PATH
 logger = logging.getLogger(__name__)
 
 
-class MANETranscriptMappings:
-    """The MANE Transcript mappings class."""
+class ManeTranscriptMappings:
+    """Provide fast tabular access to MANE summary file.
+
+    By default, acquires data from `NCBI FTP server <ftp.ncbi.nlm.nih.gov/refseq/MANE/MANE_human/current/>`_
+    if unavailable locally. The local data location can be passed as an argument or
+    given under the environment variable ``MANE_SUMMARY_PATH``.
+
+    See the `NCBI MANE page <https://www.ncbi.nlm.nih.gov/refseq/MANE/>`_ for more information.
+    """
 
     def __init__(self, mane_data_path: Path = MANE_SUMMARY_PATH) -> None:
         """Initialize the MANE Transcript mappings class.
+
         :param Path mane_data_path: Path to RefSeq MANE summary data
         """
         self.mane_data_path = mane_data_path
@@ -22,16 +32,26 @@ class MANETranscriptMappings:
 
     def _load_mane_transcript_data(self) -> pl.DataFrame:
         """Load RefSeq MANE data file into DataFrame.
+
         :return: DataFrame containing RefSeq MANE Transcript data
         """
         return pl.read_csv(self.mane_data_path, separator="\t")
 
     def get_gene_mane_data(self, gene_symbol: str) -> List[Dict]:
         """Return MANE Transcript data for a gene.
+
+        >>> from cool_seq_tool.sources import ManeTranscriptMappings
+        >>> m = ManeTranscriptMappings()
+        >>> braf_mane = m.get_gene_mane_data("BRAF")
+        >>> braf_mane[0]["RefSeq_nuc"], braf_mane[0]["MANE_status"]
+        ('NM_004333.6', 'MANE Select')
+        >>> braf_mane[1]["RefSeq_nuc"], braf_mane[1]["MANE_status"]
+        ('NM_001374258.1', 'MANE Plus Clinical')
+
         :param str gene_symbol: HGNC Gene Symbol
-        :return: List of MANE Transcript data (Transcript accessions,
-            gene, and location information). Sorted list: MANE Select and then MANE Plus
-            Clinical
+        :return: List of MANE Transcript data (Transcript accessions, gene, and
+            location information). The list is sorted so that a MANE Select entry comes
+            first, followed by a MANE Plus Clinical entry, if available.
         """
         data = self.df.filter(pl.col("symbol") == gene_symbol.upper())
 
@@ -58,7 +78,8 @@ class MANETranscriptMappings:
     def get_mane_data_from_chr_pos(
         self, alt_ac: str, start: int, end: int
     ) -> List[Dict]:
-        """Get MANE data given chromosome, start pos, end end pos. Assumes GRCh38.
+        """Get MANE data given a GRCh38 genomic position.
+
         :param str alt_ac: NC Accession
         :param int start: Start genomic position. Assumes residue coordinates.
         :param int end: End genomic position. Assumes residue coordinates.

cool_seq_tool/sources/transcript_mappings.py

@@ -1,4 +1,4 @@
-"""The module for Transcript Mappings."""
+"""Provide mappings between gene symbols and RefSeq + Ensembl transcript accessions."""
 import csv
 from pathlib import Path
 from typing import Dict, List, Optional
@@ -7,7 +7,17 @@ from cool_seq_tool.paths import LRG_REFSEQGENE_PATH, TRANSCRIPT_MAPPINGS_PATH
 
 
 class TranscriptMappings:
-    """The transcript mappings class."""
+    """Provide mappings between gene symbols and RefSeq + Ensembl transcript accessions.
+
+    Uses ``LRG_RefSeqGene`` and ``transcript_mappings.csv``, which will automatically
+    be acquired if they aren't already available. See the
+    :ref:`configuration <configuration>` section in the documentation for information
+    about manual acquisition of data.
+
+    In general, this class's methods expect to receive NCBI gene symbols, so users
+    should be careful about the sourcing of their input in cases where terms are
+    conflicted or ambiguous (which, to be fair, should be relatively rare).
+    """
 
     def __init__(
         self,
@@ -16,8 +26,8 @@ class TranscriptMappings:
     ) -> None:
         """Initialize the transcript mappings class.
 
-        :param Path transcript_file_path: Path to transcript mappings file
-        :param Path lrg_refseqgene_path: Path to LRG RefSeqGene file
+        :param transcript_file_path: Path to transcript mappings file
+        :param lrg_refseqgene_path: Path to LRG RefSeqGene file
         """
         # ENSP <-> Gene Symbol
         self.ensembl_protein_version_for_gene_symbol: Dict[str, List[str]] = {}
@@ -53,7 +63,7 @@ class TranscriptMappings:
     def _load_transcript_mappings_data(self, transcript_file_path: Path) -> None:
         """Load transcript mappings file to dictionaries.
 
-        :param Path transcript_file_path: Path to transcript mappings file
+        :param transcript_file_path: Path to transcript mappings file
         """
         with open(transcript_file_path) as file:
             reader = csv.DictReader(file, delimiter="\t")
@@ -127,7 +137,13 @@ class TranscriptMappings:
     def protein_transcripts(self, identifier: str) -> List[str]:
         """Return a list of protein transcripts for a gene symbol.
 
-        :param str identifier: Gene identifier to get protein transcripts for
+        >>> from cool_seq_tool.sources import TranscriptMappings
+        >>> braf_txs = TranscriptMappings().protein_transcripts("BRAF")
+        >>> braf_txs.sort()
+        >>> braf_txs[-1]
+        'NP_004324.2'
+
+        :param identifier: Gene identifier to get protein transcripts for
         :return: Protein transcripts for a gene symbol
         """
         protein_transcripts = list()
@@ -141,7 +157,7 @@ class TranscriptMappings:
     def coding_dna_transcripts(self, identifier: str) -> List[str]:
         """Return transcripts from a coding dna refseq for a gene symbol.
 
-        :param str identifier: Gene identifier to find transcripts for
+        :param identifier: Gene identifier to find transcripts for
         :return: cDNA transcripts for a gene symbol
         """
         genomic_transcripts = list()
@@ -159,7 +175,7 @@ class TranscriptMappings:
     def get_gene_symbol_from_ensembl_protein(self, q: str) -> Optional[str]:
         """Return the gene symbol for a Ensembl Protein.
 
-        :param str q: ensembl protein accession
+        :param q: ensembl protein accession
         :return: Gene symbol
         """
         gene_symbol = self.ensembl_protein_version_to_gene_symbol.get(q)
@@ -172,7 +188,7 @@ class TranscriptMappings:
     def get_gene_symbol_from_refeq_protein(self, q: str) -> Optional[str]:
         """Return the gene symbol for a Refseq Protein.
 
-        :param str q: RefSeq protein accession
+        :param q: RefSeq protein accession
         :return: Gene symbol
         """
         return self.refseq_protein_to_gene_symbol.get(q)
@@ -180,7 +196,7 @@ class TranscriptMappings:
     def get_gene_symbol_from_refseq_rna(self, q: str) -> Optional[str]:
         """Return gene symbol for a Refseq RNA Transcript.
 
-        :param str q: RefSeq RNA transcript accession
+        :param q: RefSeq RNA transcript accession
         :return: Gene symbol
         """
         gene_symbol = self.refseq_rna_version_to_gene_symbol.get(q)
@@ -193,7 +209,7 @@ class TranscriptMappings:
     def get_gene_symbol_from_ensembl_transcript(self, q: str) -> Optional[str]:
         """Return gene symbol for an Ensembl Transcript.
 
-        :param str q: Ensembl transcript accession
+        :param q: Ensembl transcript accession
         :return: Gene symbol
         """
         gene_symbol = self.ensembl_transcript_version_to_gene_symbol.get(q)