@gmod/gbz-base 1.0.0 → 1.1.0

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.
package/README.md CHANGED
@@ -50,6 +50,27 @@ gbz-base-query https://host/graph.gbz.db --contig chrM --offset 1000 --context 5
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  `--stats` reports how many range requests a query made and how many bytes they
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  carried.
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+ ## Snarls
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+
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+ A `.gbz.db` built by upstream `gbz-base construct` stores the top-level chains
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+ of the snarl decomposition as `next` links on the boundary node records (the
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+ `chains` and `chain_links` tags say how many). The query functions take a
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+ `snarls` option that uses them the way upstream's `--snarls` and
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+ `--extend-snarls` do:
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+
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+ - `contained` adds every top-level snarl whose two boundary nodes are both in
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+ the subgraph. With `context: 0` an interval query returns only the reference
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+ walk, and this is what brings the variation back without a bp radius.
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+ - `overlapping` also follows a boundary node whose partner lies outside the
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+ subgraph, and, when the subgraph holds no chain link at all, walks out to the
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+ snarl containing it. The subgraph must be connected, so a node query may give
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+ only one node. A snarl can be far larger than the window (a large deletion, a
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+ centromere), so set `limit` when using this mode.
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+
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+ `subgraphBetween(db, start, end)` is upstream's `--between`: everything between
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+ two oriented boundary handles of one chain, with no context. On the command line
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+ these are `--snarls`, `--extend-snarls` and `--between 129+:160+`.
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+
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  ## Naming haplotypes
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  Upstream gbz-base cannot say which haplotype a subgraph path belongs to, so it
@@ -64,7 +85,27 @@ cd tools/haplotype-index && cargo build --release
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  The second form walks the paths through the database's own node records, so a
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  database whose GBZ is no longer at hand can still be augmented; the two forms
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- write identical tables.
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+ write identical tables. Walking a GBZ uses every core (`--threads`).
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+
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+ With `--output index.db` the tool writes the same tables into a standalone
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+ companion database instead, and the reader opens the two side by side:
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+
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+ ```
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+ ./target/release/gbz-haplotype-index --interval 16384 --output graph.haplotype-index.db graph.gbz
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+ gbz-base-query https://host/graph.gbz.db --haplotype-index https://host/graph.haplotype-index.db ...
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+ ```
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+
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+ ```ts
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+ const db = await GBZBase.open(new RemoteFile(graphUrl), {
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+ haplotypeIndex: new RemoteFile(indexUrl),
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+ })
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+ ```
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+
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+ This is how a database someone else publishes gets haplotype names without
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+ anyone rehosting it: HPRC publishes `hprc-v2.1-mc-grch38.gbz.db` (10 GB) beside
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+ its graphs, and the companion for it is built from the 5 GB GBZ. The companion
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+ records the graph's path count and the reader refuses one built for a different
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+ graph.
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  `HaplotypeSamples` holds one GBWT position every `--interval` bp along every
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  path in both orientations, with the path handle and the forward coordinate of
@@ -92,7 +133,7 @@ The test suite requires this library's output to be deep equal to every one of
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  them, CIGAR strings included. `generate.sh` regenerates the oracle with an
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  upstream binary.
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135
 
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- Not ported: snarl extension (`--snarls`, `--between`), GFA output, GAF-base.
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+ Not ported: GAF-base.
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  CIGARs are computed by matching each shared node to its earliest usable
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  occurrence on the reference walk, which is weight-optimal whenever every shared
package/bin/query.js CHANGED
File without changes
package/dist/cli.js CHANGED
@@ -1,6 +1,7 @@
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  import { LocalFile, RemoteFile } from 'generic-filehandle2';
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  import { GBZBase, formatPathName } from "./db.js";
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- import { subgraphAroundNodes, subgraphAtOffset, subgraphInInterval, } from "./query.js";
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+ import { encodeNode } from "./gbwt/node.js";
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+ import { subgraphAroundNodes, subgraphAtOffset, subgraphBetween, subgraphInInterval, } from "./query.js";
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  const USAGE = `Usage: gbz-base-query [options] graph.gbz.db
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  --sample STR sample name (default: generic path)
@@ -9,23 +10,38 @@ const USAGE = `Usage: gbz-base-query [options] graph.gbz.db
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  -o, --offset INT sequence offset
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  -i, --interval A..B half-open sequence interval
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  -n, --node INT node identifier (may repeat)
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+ -b, --between A:B subgraph between two chain boundary handles, each INT[+-]
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  --context INT context length in bp (default: 100)
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+ --snarls extend the subgraph with contained top-level snarls
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+ --extend-snarls extend the subgraph with overlapping top-level snarls
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  --limit INT safety limit for the number of nodes
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  --haplotypes SEL all, distinct, reference-only or none (default: all)
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  --cigar output CIGAR strings for the haplotypes
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+ --format FMT json (default) or gfa
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  --resolve name haplotypes from the HaplotypeSamples table
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  --alignments print one alignment record per haplotype fragment instead of the subgraph
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+ --haplotype-index F companion database written by gbz-haplotype-index --output
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  --block-size INT bytes fetched per range request (default: 65536)
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  --stats print fetch statistics to stderr
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  `;
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+ function parseHandle(text) {
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+ const orientation = text.endsWith('-') ? 'reverse' : 'forward';
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+ const digits = /[+-]$/.test(text) ? text.slice(0, -1) : text;
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+ if (!/^\d+$/.test(digits)) {
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+ throw new Error(`Failed to parse oriented node ${text}`);
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+ }
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+ return encodeNode(Number(digits), orientation);
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+ }
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  function parseArgs(argv) {
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  const args = {
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  file: '',
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  haplotype: 0,
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  nodes: [],
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  context: 100,
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+ snarls: 'none',
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  haplotypes: 'all',
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  cigar: false,
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+ format: 'json',
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  resolve: false,
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  alignments: false,
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  blockSize: 65536,
@@ -64,9 +80,25 @@ function parseArgs(argv) {
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  case '--node':
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  args.nodes.push(Number(next(i++)));
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  break;
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+ case '-b':
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+ case '--between': {
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+ const [a, b, extra] = next(i++).split(':');
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+ if (a === undefined || b === undefined || extra !== undefined) {
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+ throw new Error(`--between needs two oriented nodes, like 14+:17-`);
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+ }
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+ args.between = [parseHandle(a), parseHandle(b)];
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+ break;
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+ }
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  case '--context':
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  args.context = Number(next(i++));
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  break;
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+ case '--snarls':
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+ args.snarls =
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+ args.snarls === 'overlapping' ? 'overlapping' : 'contained';
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+ break;
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+ case '--extend-snarls':
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+ args.snarls = 'overlapping';
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+ break;
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  case '--limit':
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  args.limit = Number(next(i++));
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  break;
@@ -86,12 +118,20 @@ function parseArgs(argv) {
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  case '--block-size':
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  args.blockSize = Number(next(i++));
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  break;
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+ case '--haplotype-index':
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+ args.haplotypeIndex = next(i++);
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+ break;
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  case '--stats':
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  args.stats = true;
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  break;
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- case '--format':
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- next(i++);
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+ case '--format': {
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+ const format = next(i++);
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+ if (format !== 'json' && format !== 'gfa') {
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+ throw new Error(`Unknown output format ${format}`);
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+ }
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+ args.format = format;
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  break;
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+ }
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  case '-h':
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  case '--help':
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  process.stdout.write(USAGE);
@@ -111,13 +151,17 @@ function parseArgs(argv) {
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  }
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  export async function main(argv) {
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  const args = parseArgs(argv);
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- const source = /^https?:\/\//.test(args.file)
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- ? new RemoteFile(args.file)
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- : new LocalFile(args.file);
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- const db = await GBZBase.open(source, { blockSize: args.blockSize });
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+ const open = (file) => /^https?:\/\//.test(file) ? new RemoteFile(file) : new LocalFile(file);
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+ const db = await GBZBase.open(open(args.file), {
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+ blockSize: args.blockSize,
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+ ...(args.haplotypeIndex === undefined
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+ ? {}
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+ : { haplotypeIndex: open(args.haplotypeIndex) }),
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+ });
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  const opts = {
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  context: args.context,
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  haplotypes: args.haplotypes,
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+ snarls: args.snarls,
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  ...(args.limit === undefined ? {} : { limit: args.limit }),
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  };
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  const query = {
@@ -125,19 +169,22 @@ export async function main(argv) {
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  haplotype: args.haplotype,
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  ...(args.sample === undefined ? {} : { sample: args.sample }),
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  };
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- const subgraph = args.nodes.length > 0
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- ? await subgraphAroundNodes(db, args.nodes, opts)
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- : args.interval
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- ? await subgraphInInterval(db, query, args.interval[0], args.interval[1], opts)
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- : args.offset !== undefined
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- ? await subgraphAtOffset(db, query, args.offset, opts)
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- : undefined;
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+ const subgraph = args.between
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+ ? await subgraphBetween(db, args.between[0], args.between[1], opts)
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+ : args.nodes.length > 0
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+ ? await subgraphAroundNodes(db, args.nodes, opts)
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+ : args.interval
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+ ? await subgraphInInterval(db, query, args.interval[0], args.interval[1], opts)
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+ : args.offset !== undefined
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+ ? await subgraphAtOffset(db, query, args.offset, opts)
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+ : undefined;
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  if (!subgraph) {
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- throw new Error('Query type must be specified using --offset, --interval or --node');
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+ throw new Error('Query type must be specified using --offset, --interval, --node or --between');
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  }
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  if (args.resolve) {
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  await subgraph.identifyPaths();
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  }
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+ const names = args.resolve ? 'resolved' : 'anonymous';
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  const output = args.alignments
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  ? subgraph.alignments().map(a => ({
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  ...a,
@@ -146,10 +193,10 @@ export async function main(argv) {
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  : undefined,
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  start: undefined,
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  }))
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- : subgraph.toJSON(args.cigar, {
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- names: args.resolve ? 'resolved' : 'anonymous',
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- });
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- process.stdout.write(`${JSON.stringify(output)}\n`);
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+ : subgraph.toJSON(args.cigar, { names });
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+ process.stdout.write(args.format === 'gfa' && !args.alignments
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+ ? await subgraph.toGFA(args.cigar, { names })
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+ : `${JSON.stringify(output)}\n`);
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  if (args.stats) {
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  const { fetches, bytesFetched } = db.sqlite.pager;
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  const { orderedAlignments, lcsAlignments, identificationSteps, identificationFetches, } = subgraph.stats;
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+ 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package/dist/db.d.ts CHANGED
@@ -2,6 +2,7 @@ import { GbwtRecord } from './gbwt/record.ts';
2
2
  import { SqliteDatabase } from './sqlite/database.ts';
3
3
  import type { ByteSource } from './filehandle.ts';
4
4
  import type { Pos } from './gbwt/record.ts';
5
+ import type { GraphName } from './graphName.ts';
5
6
  import type { PagerOptions } from './sqlite/pager.ts';
6
7
  export interface PathName {
7
8
  sample: string;
@@ -46,12 +47,17 @@ export declare class GbzRecord {
46
47
  successors(): number[];
47
48
  gbwt(): GbwtRecord;
48
49
  }
50
+ export interface OpenOptions extends PagerOptions {
51
+ haplotypeIndex?: ByteSource;
52
+ }
49
53
  export declare class GBZBase {
50
54
  private tagCache;
51
55
  private pathCache;
56
+ private indexTags;
52
57
  readonly sqlite: SqliteDatabase;
58
+ private readonly index;
53
59
  private constructor();
54
- static open(source: ByteSource, opts?: PagerOptions): Promise<GBZBase>;
60
+ static open(source: ByteSource, opts?: OpenOptions): Promise<GBZBase>;
55
61
  tags(): Promise<Map<string, string>>;
56
62
  tag(key: string): Promise<string | undefined>;
57
63
  getRecord(handle: number): Promise<GbzRecord | undefined>;
@@ -59,6 +65,8 @@ export declare class GBZBase {
59
65
  getPath(handle: number): Promise<GbzPath | undefined>;
60
66
  findPath(name: PathName): Promise<GbzPath | undefined>;
61
67
  pathsForSample(sample: string): Promise<GbzPath[]>;
68
+ graphName(): Promise<GraphName>;
69
+ hasChainLinks(): Promise<boolean>;
62
70
  get hasHaplotypeIndex(): boolean;
63
71
  haplotypeSampleInterval(): Promise<number | undefined>;
64
72
  private sampleFromRow;
package/dist/db.js CHANGED
@@ -1,6 +1,7 @@
1
1
  import { ENDMARKER, nodeId, nodeOrientation } from "./gbwt/node.js";
2
2
  import { GbwtRecord, decompressEdges } from "./gbwt/record.js";
3
3
  import { decodeSequence, encodedSequenceLength } from "./gbwt/sequence.js";
4
+ import { graphNameFromTags } from "./graphName.js";
4
5
  import { SqliteDatabase } from "./sqlite/database.js";
5
6
  export const GENERIC_SAMPLE = '_gbwt_ref';
6
7
  export const SCHEMA_VERSION = 'GBZ-base version 4';
@@ -91,33 +92,52 @@ function rowToPath(rowid, values) {
91
92
  isIndexed: num(values[9], 'Paths.is_indexed') !== 0,
92
93
  };
93
94
  }
95
+ async function readTags(sqlite) {
96
+ const tags = new Map();
97
+ for await (const { values } of sqlite.scan('Tags')) {
98
+ tags.set(str(values[0], 'Tags.key'), str(values[1], 'Tags.value'));
99
+ }
100
+ return tags;
101
+ }
94
102
  export class GBZBase {
95
103
  tagCache;
96
104
  pathCache;
105
+ indexTags;
97
106
  sqlite;
98
- constructor(sqlite) {
107
+ index;
108
+ constructor(sqlite, index) {
99
109
  this.sqlite = sqlite;
110
+ this.index = index;
100
111
  }
101
112
  static async open(source, opts = {}) {
102
- const sqlite = await SqliteDatabase.open(source, opts);
113
+ const { haplotypeIndex, ...pagerOptions } = opts;
114
+ const sqlite = await SqliteDatabase.open(source, pagerOptions);
103
115
  for (const table of ['Tags', 'Nodes', 'Paths', 'ReferenceIndex']) {
104
116
  sqlite.rootPage(table);
105
117
  }
106
- const db = new GBZBase(sqlite);
118
+ const index = haplotypeIndex
119
+ ? await SqliteDatabase.open(haplotypeIndex, pagerOptions)
120
+ : sqlite;
121
+ const db = new GBZBase(sqlite, index);
107
122
  const version = await db.tag('version');
108
123
  if (version !== SCHEMA_VERSION) {
109
124
  throw new SchemaVersionError(version);
110
125
  }
126
+ if (haplotypeIndex) {
127
+ for (const table of ['Tags', 'HaplotypeSamples', 'HaplotypeLengths']) {
128
+ index.rootPage(table);
129
+ }
130
+ db.indexTags = await readTags(index);
131
+ const indexed = db.indexTags.get('haplotype_index_paths');
132
+ const paths = await db.tag('paths');
133
+ if (indexed !== paths) {
134
+ throw new Error(`haplotype index was built for ${indexed ?? 'an unknown number of'} paths but the graph has ${paths}`);
135
+ }
136
+ }
111
137
  return db;
112
138
  }
113
139
  tags() {
114
- this.tagCache ??= (async () => {
115
- const tags = new Map();
116
- for await (const { values } of this.sqlite.scan('Tags')) {
117
- tags.set(str(values[0], 'Tags.key'), str(values[1], 'Tags.value'));
118
- }
119
- return tags;
120
- })();
140
+ this.tagCache ??= readTags(this.sqlite);
121
141
  return this.tagCache;
122
142
  }
123
143
  async tag(key) {
@@ -155,11 +175,37 @@ export class GBZBase {
155
175
  async pathsForSample(sample) {
156
176
  return (await this.paths()).filter(p => p.name.sample === sample);
157
177
  }
178
+ async graphName() {
179
+ const gbzTags = new Map();
180
+ for (const [key, value] of await this.tags()) {
181
+ if (key.startsWith('gbz_')) {
182
+ gbzTags.set(key.slice('gbz_'.length), value);
183
+ }
184
+ }
185
+ let name = {
186
+ name: undefined,
187
+ subgraph: new Map(),
188
+ translation: new Map(),
189
+ };
190
+ try {
191
+ name = graphNameFromTags(gbzTags);
192
+ }
193
+ catch {
194
+ // upstream falls back to an empty name when the tags do not parse
195
+ }
196
+ return name;
197
+ }
198
+ async hasChainLinks() {
199
+ const links = await this.tag('chain_links');
200
+ return links !== undefined && Number(links) > 0;
201
+ }
158
202
  get hasHaplotypeIndex() {
159
- return (this.sqlite.has('HaplotypeSamples') && this.sqlite.has('HaplotypeLengths'));
203
+ return (this.index.has('HaplotypeSamples') && this.index.has('HaplotypeLengths'));
160
204
  }
161
205
  async haplotypeSampleInterval() {
162
- const value = await this.tag('haplotype_index_interval');
206
+ const value = this.indexTags
207
+ ? this.indexTags.get('haplotype_index_interval')
208
+ : await this.tag('haplotype_index_interval');
163
209
  return value === undefined ? undefined : Number(value);
164
210
  }
165
211
  sampleFromRow(values) {
@@ -175,7 +221,7 @@ export class GBZBase {
175
221
  }
176
222
  async haplotypeSamplesInRange(minHandle, maxHandle) {
177
223
  const samples = [];
178
- for await (const key of this.sqlite.indexScanFrom('HaplotypeSamples', [
224
+ for await (const key of this.index.indexScanFrom('HaplotypeSamples', [
179
225
  minHandle,
180
226
  0,
181
227
  ])) {
@@ -183,7 +229,7 @@ export class GBZBase {
183
229
  if (node > maxHandle) {
184
230
  break;
185
231
  }
186
- const row = await this.sqlite.byRowid('HaplotypeSamples', num(key[2], 'HaplotypeSamples rowid'));
232
+ const row = await this.index.byRowid('HaplotypeSamples', num(key[2], 'HaplotypeSamples rowid'));
187
233
  if (row) {
188
234
  samples.push(this.sampleFromRow(row));
189
235
  }
@@ -191,18 +237,15 @@ export class GBZBase {
191
237
  return samples;
192
238
  }
193
239
  async haplotypeSampleAt(node, offset) {
194
- const key = await this.sqlite.indexSeekLE('HaplotypeSamples', [
195
- node,
196
- offset,
197
- ]);
240
+ const key = await this.index.indexSeekLE('HaplotypeSamples', [node, offset]);
198
241
  if (key?.[0] !== node || key[1] !== offset) {
199
242
  return undefined;
200
243
  }
201
- const row = await this.sqlite.byRowid('HaplotypeSamples', num(key[2], 'HaplotypeSamples rowid'));
244
+ const row = await this.index.byRowid('HaplotypeSamples', num(key[2], 'HaplotypeSamples rowid'));
202
245
  return row ? this.sampleFromRow(row) : undefined;
203
246
  }
204
247
  async haplotypeLength(pathHandle) {
205
- const row = await this.sqlite.byRowid('HaplotypeLengths', pathHandle);
248
+ const row = await this.index.byRowid('HaplotypeLengths', pathHandle);
206
249
  return row ? num(row[1], 'HaplotypeLengths.length') : undefined;
207
250
  }
208
251
  async indexedPosition(pathHandle, pathOffset) {
package/dist/db.js.map CHANGED
@@ -1 +1 @@
1
- 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1
+ 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@@ -14,5 +14,9 @@ export declare class GbwtRecord {
14
14
  private edgeTo;
15
15
  offsetTo(pos: Pos): number | undefined;
16
16
  predecessorAt(i: number): number | undefined;
17
+ decompressArrays(): {
18
+ nodes: Int32Array<ArrayBuffer>;
19
+ offsets: Int32Array<ArrayBuffer>;
20
+ };
17
21
  decompress(): Pos[];
18
22
  }
@@ -123,6 +123,28 @@ export class GbwtRecord {
123
123
  }
124
124
  return undefined;
125
125
  }
126
+ decompressArrays() {
127
+ const offsets = this.edges.map(e => e.offset);
128
+ let total = 0;
129
+ for (const run of this.runs()) {
130
+ total += run.len;
131
+ }
132
+ const nodes = new Int32Array(total);
133
+ const nextOffsets = new Int32Array(total);
134
+ let i = 0;
135
+ for (const run of this.runs()) {
136
+ const edge = this.edge(run.value);
137
+ let offset = offsets[run.value];
138
+ for (let k = 0; k < run.len; k++) {
139
+ nodes[i] = edge.node;
140
+ nextOffsets[i] = offset;
141
+ offset += 1;
142
+ i += 1;
143
+ }
144
+ offsets[run.value] = offset;
145
+ }
146
+ return { nodes, offsets: nextOffsets };
147
+ }
126
148
  decompress() {
127
149
  const offsets = this.edges.map(e => e.offset);
128
150
  const result = [];
@@ -1 +1 @@
1
- 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1
+ 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@@ -0,0 +1,9 @@
1
+ export interface GraphName {
2
+ name: string | undefined;
3
+ subgraph: Map<string, Set<string>>;
4
+ translation: Map<string, Set<string>>;
5
+ }
6
+ export declare function graphNameFromTags(tags: Map<string, string>): GraphName;
7
+ export declare function subgraphName(name: string, parent: GraphName): GraphName;
8
+ export declare function gfaHeaderLines(graphName: GraphName): string[];
9
+ export declare function sha256Hex(chunks: Uint8Array[]): Promise<string>;