@gmod/bam 8.5.1 → 8.6.0

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 (51) hide show
  1. package/README.md +30 -0
  2. package/dist/bamFile.d.ts +94 -1
  3. package/dist/bamFile.js +94 -3
  4. package/dist/bamFile.js.map +1 -1
  5. package/dist/htsget.d.ts +8 -1
  6. package/dist/htsget.js +4 -1
  7. package/dist/htsget.js.map +1 -1
  8. package/dist/index.d.ts +5 -1
  9. package/dist/index.js +15 -1
  10. package/dist/index.js.map +1 -1
  11. package/dist/mismatches.d.ts +114 -0
  12. package/dist/mismatches.js +397 -0
  13. package/dist/mismatches.js.map +1 -0
  14. package/dist/record.d.ts +45 -0
  15. package/dist/record.js +76 -10
  16. package/dist/record.js.map +1 -1
  17. package/dist/reference.d.ts +45 -0
  18. package/dist/reference.js +61 -0
  19. package/dist/reference.js.map +1 -0
  20. package/dist/seqAlphabet.d.ts +3 -0
  21. package/dist/seqAlphabet.js +14 -0
  22. package/dist/seqAlphabet.js.map +1 -0
  23. package/esm/bamFile.d.ts +94 -1
  24. package/esm/bamFile.js +94 -3
  25. package/esm/bamFile.js.map +1 -1
  26. package/esm/htsget.d.ts +8 -1
  27. package/esm/htsget.js +4 -1
  28. package/esm/htsget.js.map +1 -1
  29. package/esm/index.d.ts +5 -1
  30. package/esm/index.js +6 -0
  31. package/esm/index.js.map +1 -1
  32. package/esm/mismatches.d.ts +114 -0
  33. package/esm/mismatches.js +393 -0
  34. package/esm/mismatches.js.map +1 -0
  35. package/esm/record.d.ts +45 -0
  36. package/esm/record.js +69 -3
  37. package/esm/record.js.map +1 -1
  38. package/esm/reference.d.ts +45 -0
  39. package/esm/reference.js +55 -0
  40. package/esm/reference.js.map +1 -0
  41. package/esm/seqAlphabet.d.ts +3 -0
  42. package/esm/seqAlphabet.js +11 -0
  43. package/esm/seqAlphabet.js.map +1 -0
  44. package/package.json +1 -1
  45. package/src/bamFile.ts +178 -1
  46. package/src/htsget.ts +16 -2
  47. package/src/index.ts +26 -1
  48. package/src/mismatches.ts +623 -0
  49. package/src/record.ts +95 -3
  50. package/src/reference.ts +87 -0
  51. package/src/seqAlphabet.ts +10 -0
@@ -1 +1 @@
1
- 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@@ -0,0 +1,45 @@
1
+ /**
2
+ * A region of reference sequence in BAM's own 4-bit alphabet, so the mismatch
3
+ * walk can compare it against a read's already-packed `NUMERIC_SEQ` a byte —
4
+ * two bases — at a time, instead of unpacking a nibble and reading a string
5
+ * character per base. Only the rare byte that differs gets unpacked.
6
+ *
7
+ * Two packings, because a read's sequence parity and its reference parity need
8
+ * not agree: `even[i]` holds region bases (2i, 2i+1), `odd[i]` holds
9
+ * (2i-1, 2i). The walk picks whichever lines the reference pair up with the
10
+ * read's byte boundary. Together they cost one byte per base, the same as the
11
+ * region string they replace.
12
+ *
13
+ * Build one with {@link packReference}, per region rather than per read: a
14
+ * pileup's reads all resolve against the same region, and packing is the only
15
+ * per-base pass in the whole walk.
16
+ */
17
+ export interface PackedReference {
18
+ /** 0-based reference coordinate of the first base */
19
+ start: number;
20
+ /** length in bases, i.e. of the string this was packed from */
21
+ length: number;
22
+ even: Uint8Array;
23
+ odd: Uint8Array;
24
+ }
25
+ /**
26
+ * The 4-bit codes back to ASCII, for reporting a mismatch's reference base.
27
+ * Always the uppercase spelling: packing is case-insensitive, so a soft-masked
28
+ * reference reports `A` where the raw string would have said `a`.
29
+ */
30
+ export declare const CHAR_CODE_FROM_NIBBLE: Uint8Array<ArrayBuffer>;
31
+ /**
32
+ * Pack a region of reference sequence for {@link PackedReference}.
33
+ *
34
+ * @param seq the reference bases, case-insensitive
35
+ * @param start the 0-based reference coordinate `seq[0]` sits at
36
+ */
37
+ export declare function packReference(seq: string, start?: number): PackedReference;
38
+ /**
39
+ * The single reference base at region-relative index `i`, for the ends of an
40
+ * odd-length run. Callers bound `i` to the region themselves — reading past the
41
+ * end would report a base the region does not have.
42
+ */
43
+ export declare function referenceNibble(ref: PackedReference, i: number): number;
44
+ /** whether `ref` covers every base of the 0-based half-open span [start, end) */
45
+ export declare function referenceCovers(ref: PackedReference, start: number, end: number): boolean;
@@ -0,0 +1,61 @@
1
+ "use strict";
2
+ Object.defineProperty(exports, "__esModule", { value: true });
3
+ exports.CHAR_CODE_FROM_NIBBLE = void 0;
4
+ exports.packReference = packReference;
5
+ exports.referenceNibble = referenceNibble;
6
+ exports.referenceCovers = referenceCovers;
7
+ const seqAlphabet_ts_1 = require("./seqAlphabet.js");
8
+ // ASCII -> 4-bit code, case-insensitive. Anything outside the alphabet reads as
9
+ // N, which mismatches every concrete base — what an unrecognized character does
10
+ // when the comparison is done in ASCII.
11
+ const NIBBLE_FROM_CHAR = new Uint8Array(256).fill(15);
12
+ for (let i = 0; i < 16; i++) {
13
+ NIBBLE_FROM_CHAR[seqAlphabet_ts_1.SEQRET.charCodeAt(i)] = i;
14
+ NIBBLE_FROM_CHAR[seqAlphabet_ts_1.SEQRET.charCodeAt(i) | 0x20] = i;
15
+ }
16
+ /**
17
+ * The 4-bit codes back to ASCII, for reporting a mismatch's reference base.
18
+ * Always the uppercase spelling: packing is case-insensitive, so a soft-masked
19
+ * reference reports `A` where the raw string would have said `a`.
20
+ */
21
+ exports.CHAR_CODE_FROM_NIBBLE = new Uint8Array(16);
22
+ for (let i = 0; i < 16; i++) {
23
+ exports.CHAR_CODE_FROM_NIBBLE[i] = seqAlphabet_ts_1.SEQRET.charCodeAt(i);
24
+ }
25
+ /**
26
+ * Pack a region of reference sequence for {@link PackedReference}.
27
+ *
28
+ * @param seq the reference bases, case-insensitive
29
+ * @param start the 0-based reference coordinate `seq[0]` sits at
30
+ */
31
+ function packReference(seq, start = 0) {
32
+ const n = seq.length;
33
+ const even = new Uint8Array((n >> 1) + 1);
34
+ const odd = new Uint8Array((n >> 1) + 1);
35
+ for (let i = 0; i < n; i++) {
36
+ const code = seq.charCodeAt(i);
37
+ const nibble = code < 256 ? NIBBLE_FROM_CHAR[code] : 15;
38
+ if (i & 1) {
39
+ even[i >> 1] |= nibble;
40
+ odd[(i + 1) >> 1] = nibble << 4;
41
+ }
42
+ else {
43
+ even[i >> 1] = nibble << 4;
44
+ odd[i >> 1] |= nibble;
45
+ }
46
+ }
47
+ return { start, length: n, even, odd };
48
+ }
49
+ /**
50
+ * The single reference base at region-relative index `i`, for the ends of an
51
+ * odd-length run. Callers bound `i` to the region themselves — reading past the
52
+ * end would report a base the region does not have.
53
+ */
54
+ function referenceNibble(ref, i) {
55
+ return (ref.even[i >> 1] >> ((1 - (i & 1)) << 2)) & 0xf;
56
+ }
57
+ /** whether `ref` covers every base of the 0-based half-open span [start, end) */
58
+ function referenceCovers(ref, start, end) {
59
+ return ref.start <= start && ref.start + ref.length >= end;
60
+ }
61
+ //# sourceMappingURL=reference.js.map
@@ -0,0 +1 @@
1
+ {"version":3,"file":"reference.js","sourceRoot":"","sources":["../src/reference.ts"],"names":[],"mappings":";;;AAoDA,sCAgBC;AAOD,0CAEC;AAGD,0CAMC;AAtFD,qDAAyC;AA2BzC,gFAAgF;AAChF,gFAAgF;AAChF,wCAAwC;AACxC,MAAM,gBAAgB,GAAG,IAAI,UAAU,CAAC,GAAG,CAAC,CAAC,IAAI,CAAC,EAAE,CAAC,CAAA;AACrD,KAAK,IAAI,CAAC,GAAG,CAAC,EAAE,CAAC,GAAG,EAAE,EAAE,CAAC,EAAE,EAAE,CAAC;IAC5B,gBAAgB,CAAC,uBAAM,CAAC,UAAU,CAAC,CAAC,CAAC,CAAC,GAAG,CAAC,CAAA;IAC1C,gBAAgB,CAAC,uBAAM,CAAC,UAAU,CAAC,CAAC,CAAC,GAAG,IAAI,CAAC,GAAG,CAAC,CAAA;AACnD,CAAC;AAED;;;;GAIG;AACU,QAAA,qBAAqB,GAAG,IAAI,UAAU,CAAC,EAAE,CAAC,CAAA;AACvD,KAAK,IAAI,CAAC,GAAG,CAAC,EAAE,CAAC,GAAG,EAAE,EAAE,CAAC,EAAE,EAAE,CAAC;IAC5B,6BAAqB,CAAC,CAAC,CAAC,GAAG,uBAAM,CAAC,UAAU,CAAC,CAAC,CAAC,CAAA;AACjD,CAAC;AAED;;;;;GAKG;AACH,SAAgB,aAAa,CAAC,GAAW,EAAE,KAAK,GAAG,CAAC;IAClD,MAAM,CAAC,GAAG,GAAG,CAAC,MAAM,CAAA;IACpB,MAAM,IAAI,GAAG,IAAI,UAAU,CAAC,CAAC,CAAC,IAAI,CAAC,CAAC,GAAG,CAAC,CAAC,CAAA;IACzC,MAAM,GAAG,GAAG,IAAI,UAAU,CAAC,CAAC,CAAC,IAAI,CAAC,CAAC,GAAG,CAAC,CAAC,CAAA;IACxC,KAAK,IAAI,CAAC,GAAG,CAAC,EAAE,CAAC,GAAG,CAAC,EAAE,CAAC,EAAE,EAAE,CAAC;QAC3B,MAAM,IAAI,GAAG,GAAG,CAAC,UAAU,CAAC,CAAC,CAAC,CAAA;QAC9B,MAAM,MAAM,GAAG,IAAI,GAAG,GAAG,CAAC,CAAC,CAAC,gBAAgB,CAAC,IAAI,CAAE,CAAC,CAAC,CAAC,EAAE,CAAA;QACxD,IAAI,CAAC,GAAG,CAAC,EAAE,CAAC;YACV,IAAI,CAAC,CAAC,IAAI,CAAC,CAAE,IAAI,MAAM,CAAA;YACvB,GAAG,CAAC,CAAC,CAAC,GAAG,CAAC,CAAC,IAAI,CAAC,CAAC,GAAG,MAAM,IAAI,CAAC,CAAA;QACjC,CAAC;aAAM,CAAC;YACN,IAAI,CAAC,CAAC,IAAI,CAAC,CAAC,GAAG,MAAM,IAAI,CAAC,CAAA;YAC1B,GAAG,CAAC,CAAC,IAAI,CAAC,CAAE,IAAI,MAAM,CAAA;QACxB,CAAC;IACH,CAAC;IACD,OAAO,EAAE,KAAK,EAAE,MAAM,EAAE,CAAC,EAAE,IAAI,EAAE,GAAG,EAAE,CAAA;AACxC,CAAC;AAED;;;;GAIG;AACH,SAAgB,eAAe,CAAC,GAAoB,EAAE,CAAS;IAC7D,OAAO,CAAC,GAAG,CAAC,IAAI,CAAC,CAAC,IAAI,CAAC,CAAE,IAAI,CAAC,CAAC,CAAC,GAAG,CAAC,CAAC,GAAG,CAAC,CAAC,CAAC,IAAI,CAAC,CAAC,CAAC,GAAG,GAAG,CAAA;AAC1D,CAAC;AAED,iFAAiF;AACjF,SAAgB,eAAe,CAC7B,GAAoB,EACpB,KAAa,EACb,GAAW;IAEX,OAAO,GAAG,CAAC,KAAK,IAAI,KAAK,IAAI,GAAG,CAAC,KAAK,GAAG,GAAG,CAAC,MAAM,IAAI,GAAG,CAAA;AAC5D,CAAC"}
@@ -0,0 +1,3 @@
1
+ export declare const SEQRET = "=ACMGRSVTWYHKDBN";
2
+ export declare const SEQRET_DECODER: string[];
3
+ export declare const SEQRET_CODES: Uint8Array<ArrayBuffer>;
@@ -0,0 +1,14 @@
1
+ "use strict";
2
+ Object.defineProperty(exports, "__esModule", { value: true });
3
+ exports.SEQRET_CODES = exports.SEQRET_DECODER = exports.SEQRET = void 0;
4
+ // BAM's 4-bit sequence alphabet (SAM spec §4.2, `seq`): nibble value -> base.
5
+ //
6
+ // Shared rather than duplicated because three modules need it for three
7
+ // different shapes — `record.ts` builds pair/quad tables on top of it to decode
8
+ // whole reads, `reference.ts` inverts it to pack a reference the same way, and
9
+ // `mismatches.ts` reads single bases out of it — and a copy that drifted would
10
+ // silently mis-decode one of them.
11
+ exports.SEQRET = '=ACMGRSVTWYHKDBN';
12
+ exports.SEQRET_DECODER = exports.SEQRET.split('');
13
+ exports.SEQRET_CODES = Uint8Array.from(exports.SEQRET, c => c.charCodeAt(0));
14
+ //# sourceMappingURL=seqAlphabet.js.map
@@ -0,0 +1 @@
1
+ {"version":3,"file":"seqAlphabet.js","sourceRoot":"","sources":["../src/seqAlphabet.ts"],"names":[],"mappings":";;;AAAA,8EAA8E;AAC9E,EAAE;AACF,wEAAwE;AACxE,gFAAgF;AAChF,+EAA+E;AAC/E,+EAA+E;AAC/E,mCAAmC;AACtB,QAAA,MAAM,GAAG,kBAAkB,CAAA;AAC3B,QAAA,cAAc,GAAG,cAAM,CAAC,KAAK,CAAC,EAAE,CAAC,CAAA;AACjC,QAAA,YAAY,GAAG,UAAU,CAAC,IAAI,CAAC,cAAM,EAAE,CAAC,CAAC,EAAE,CAAC,CAAC,CAAC,UAAU,CAAC,CAAC,CAAC,CAAC,CAAA"}
package/esm/bamFile.d.ts CHANGED
@@ -3,6 +3,7 @@ import BAI from './bai.ts';
3
3
  import CSI from './csi.ts';
4
4
  import BAMFeature from './record.ts';
5
5
  import type Chunk from './chunk.ts';
6
+ import type { PackedReference } from './reference.ts';
6
7
  import type { BamOpts, BaseOpts } from './util.ts';
7
8
  import type { BgzfWorkerPool } from '@gmod/bgzf-filehandle';
8
9
  import type { SharedBudget } from '@gmod/shared-read-cache';
@@ -17,7 +18,35 @@ export interface BamRecordLike {
17
18
  next_refid: number;
18
19
  flags: number;
19
20
  tags: Record<string, unknown>;
21
+ /**
22
+ * Optional, and read only to decide whether a read needs reference bases at
23
+ * all — a read with an MD tag carries its own. A `recordClass` without it is
24
+ * treated as having no MD, i.e. as always wanting the reference.
25
+ */
26
+ NUMERIC_MD?: Uint8Array | undefined;
27
+ /**
28
+ * Optional; see {@link BamRecord.setReference}. A `recordClass` that does not
29
+ * implement it simply never gets a reference bound, whatever
30
+ * `fetchReferenceSequence` returns.
31
+ */
32
+ setReference?: (ref: PackedReference) => void;
20
33
  }
34
+ /**
35
+ * Supplies reference bases for a region, so reads with no MD tag can still
36
+ * report their substitutions. See {@link BamFile}'s option of the same name.
37
+ *
38
+ * `refName` is the name the query used, unchanged — `renameRefSeqs` maps the
39
+ * FILE's names into the caller's namespace, and this callback is on the
40
+ * caller's side of that. `start`/`end` are 0-based half-open.
41
+ *
42
+ * **The bases returned must begin at `start`.** Returning fewer than asked for
43
+ * is fine and is taken as `[start, start + seq.length)` — the end of a contig,
44
+ * or a source declining to hand over a huge span — and reads the shorter region
45
+ * does not cover are then left unresolved. Returning bases from somewhere else,
46
+ * e.g. clipping the LEFT of the requested range, cannot be detected and
47
+ * resolves every read against the wrong position.
48
+ */
49
+ export type ReferenceSequenceFetcher = (refName: string, start: number, end: number, opts?: BaseOpts) => Promise<string>;
21
50
  export type BamRecordClass<T extends BamRecordLike = BAMFeature> = new (byteArray: Uint8Array, start: number, end: number, fileOffset: number, dataView: DataView) => T;
22
51
  export declare const BAM_MAGIC = 21840194;
23
52
  interface ChunkEntry<T> {
@@ -46,7 +75,9 @@ export default class BamFile<T extends BamRecordLike = BAMFeature> {
46
75
  private RecordClass;
47
76
  /** see the constructor option of the same name */
48
77
  private bgzfWorkerPool?;
49
- constructor({ bamFilehandle, bamPath, bamUrl, baiPath, baiFilehandle, baiUrl, csiPath, csiFilehandle, csiUrl, htsget, renameRefSeqs, recordClass, maxCacheBytes, cacheIdleTimeoutMs, cacheBudget, bgzfWorkerPool, }: {
78
+ /** see the constructor option of the same name */
79
+ fetchReferenceSequence?: ReferenceSequenceFetcher;
80
+ constructor({ bamFilehandle, bamPath, bamUrl, baiPath, baiFilehandle, baiUrl, csiPath, csiFilehandle, csiUrl, htsget, renameRefSeqs, recordClass, maxCacheBytes, cacheIdleTimeoutMs, cacheBudget, bgzfWorkerPool, fetchReferenceSequence, }: {
50
81
  bamFilehandle?: GenericFilehandle;
51
82
  bamPath?: string;
52
83
  bamUrl?: string;
@@ -135,6 +166,33 @@ export default class BamFile<T extends BamRecordLike = BAMFeature> {
135
166
  * in-process path, so this is safe to pass unconditionally.
136
167
  */
137
168
  bgzfWorkerPool?: BgzfWorkerPool | Promise<BgzfWorkerPool | undefined> | undefined;
169
+ /**
170
+ * Reference bases for a region, as `(refName, start, end, opts) =>
171
+ * Promise<string>`. Only reads that carry no `MD` tag need it, and it is
172
+ * only what {@link BamRecord.forEachMismatch} uses — nothing else in a
173
+ * query touches the reference.
174
+ *
175
+ * Without it, a read lacking MD still reports its indels and clips but no
176
+ * substitutions at all: neither the CIGAR nor SEQ says where they are.
177
+ * That is most aligners' output — minimap2 and bwa both leave MD off unless
178
+ * asked — so this is the difference between mismatches rendering and not.
179
+ *
180
+ * `getRecordsForRange` calls it at most ONCE per query, for the span of the
181
+ * reads that need it, and binds the result to each of them (see
182
+ * {@link BamRecord.setReference}). A query whose reads all carry MD does
183
+ * not call it at all.
184
+ *
185
+ * **The span asked for is the reads' union, not the query's**: the query's
186
+ * range plus however far its edge reads overhang it. Usually that is a few
187
+ * hundred bases more for Illumina and a couple of Mb for ultra-long ONT,
188
+ * but a BAM holding whole chromosomes as reads can make it a chromosome.
189
+ * Nothing here clamps that for you, because only you know what your
190
+ * sequence source can afford — clamp inside the callback and return the
191
+ * shorter region; reads it does not cover are then simply left unresolved,
192
+ * and {@link BamRecord.forEachMismatch}'s `opts.ref` is the windowed way to
193
+ * handle one of those reads.
194
+ */
195
+ fetchReferenceSequence?: ReferenceSequenceFetcher;
138
196
  });
139
197
  getHeaderPre(opts?: BaseOpts): Promise<{
140
198
  tag: string;
@@ -201,6 +259,41 @@ export default class BamFile<T extends BamRecordLike = BAMFeature> {
201
259
  * it for every other query still holding that read. See ADR 0006.
202
260
  */
203
261
  getRecordsForRange(chr: string, min: number, max: number, opts?: BamOpts): Promise<T[]>;
262
+ /**
263
+ * Reference bases for a region, packed for
264
+ * {@link BamRecord.forEachMismatch}'s `opts.ref`, or undefined when no
265
+ * `fetchReferenceSequence` was configured.
266
+ *
267
+ * The way to resolve a read that is longer than the region you are looking at
268
+ * — a contig or a whole chromosome stored as one BAM read. Those are never
269
+ * bound to a record automatically, since binding a partial region to a
270
+ * record shared between queries is the hazard ADR 0006 is about; walking one
271
+ * with a window and a region of your own choosing has no such problem:
272
+ *
273
+ * ```js
274
+ * const ref = await bam.getReferenceRegion('chr1', start, end)
275
+ * record.forEachMismatch(cb, { ref, start, end })
276
+ * ```
277
+ */
278
+ getReferenceRegion(refName: string, start: number, end: number, opts?: BaseOpts): Promise<PackedReference | undefined>;
279
+ /**
280
+ * Fetch reference bases for the reads in `records` that have no MD tag, and
281
+ * bind them to those reads so their substitutions resolve. A no-op unless
282
+ * `fetchReferenceSequence` was configured, and it issues at most one fetch.
283
+ *
284
+ * The span fetched is the union of the reads that need it, NOT the queried
285
+ * range: a read overhanging the range is only bound to a region covering all
286
+ * of it, because the records are shared between queries and a binding that
287
+ * varied by query would make one query's reads answer out of another's region
288
+ * (ADR 0006, ADR 0020). Reads on another reference — `viewAsPairs` mates with
289
+ * `pairAcrossChr` — are left out for the same reason, and unbound.
290
+ *
291
+ * Nothing clamps that union, since only the callback knows what its sequence
292
+ * source can afford; a callback that returns a shorter region than it was
293
+ * asked for leaves the reads it does not cover unbound, which is the same
294
+ * outcome by a route the consumer controls.
295
+ */
296
+ protected _applyReferenceSequence(records: T[], chrId: number, refName: string, opts?: BaseOpts): Promise<void>;
204
297
  private _cachedChunkFeatures;
205
298
  private _fetchChunkFeatures;
206
299
  fetchPairs(chrId: number, records: T[], opts: BamOpts): Promise<T[]>;
package/esm/bamFile.js CHANGED
@@ -6,6 +6,7 @@ import BAI from "./bai.js";
6
6
  import CSI from "./csi.js";
7
7
  import NullFilehandle from "./nullFilehandle.js";
8
8
  import BAMFeature from "./record.js";
9
+ import { packReference, referenceCovers } from "./reference.js";
9
10
  import { parseHeaderText } from "./sam.js";
10
11
  import { MAX_CONCURRENT_CHUNK_READS, appendInRange, parseRefSeqs, throwIfAborted, } from "./util.js";
11
12
  export const BAM_MAGIC = 21840194;
@@ -106,9 +107,12 @@ export default class BamFile {
106
107
  RecordClass;
107
108
  /** see the constructor option of the same name */
108
109
  bgzfWorkerPool;
109
- constructor({ bamFilehandle, bamPath, bamUrl, baiPath, baiFilehandle, baiUrl, csiPath, csiFilehandle, csiUrl, htsget, renameRefSeqs = n => n, recordClass, maxCacheBytes = DEFAULT_MAX_CACHE_BYTES, cacheIdleTimeoutMs = DEFAULT_CACHE_IDLE_TIMEOUT_MS, cacheBudget, bgzfWorkerPool, }) {
110
+ /** see the constructor option of the same name */
111
+ fetchReferenceSequence;
112
+ constructor({ bamFilehandle, bamPath, bamUrl, baiPath, baiFilehandle, baiUrl, csiPath, csiFilehandle, csiUrl, htsget, renameRefSeqs = n => n, recordClass, maxCacheBytes = DEFAULT_MAX_CACHE_BYTES, cacheIdleTimeoutMs = DEFAULT_CACHE_IDLE_TIMEOUT_MS, cacheBudget, bgzfWorkerPool, fetchReferenceSequence, }) {
110
113
  this.renameRefSeq = renameRefSeqs;
111
114
  this.bgzfWorkerPool = bgzfWorkerPool;
115
+ this.fetchReferenceSequence = fetchReferenceSequence;
112
116
  this.RecordClass = (recordClass ?? BAMFeature);
113
117
  this.chunkFeatureCache = new SharedReadCache({
114
118
  maxSize: maxCacheBytes,
@@ -263,7 +267,90 @@ export default class BamFile {
263
267
  return [];
264
268
  }
265
269
  const chunks = await this.index.blocksForRange(chrId, min - 1, max, opts);
266
- return this._fetchChunkFeatures(chunks, chrId, min, max, opts);
270
+ return this._fetchChunkFeatures(chunks, chrId, chr, min, max, opts);
271
+ }
272
+ /**
273
+ * Reference bases for a region, packed for
274
+ * {@link BamRecord.forEachMismatch}'s `opts.ref`, or undefined when no
275
+ * `fetchReferenceSequence` was configured.
276
+ *
277
+ * The way to resolve a read that is longer than the region you are looking at
278
+ * — a contig or a whole chromosome stored as one BAM read. Those are never
279
+ * bound to a record automatically, since binding a partial region to a
280
+ * record shared between queries is the hazard ADR 0006 is about; walking one
281
+ * with a window and a region of your own choosing has no such problem:
282
+ *
283
+ * ```js
284
+ * const ref = await bam.getReferenceRegion('chr1', start, end)
285
+ * record.forEachMismatch(cb, { ref, start, end })
286
+ * ```
287
+ */
288
+ async getReferenceRegion(refName, start, end, opts) {
289
+ const fetchReferenceSequence = this.fetchReferenceSequence;
290
+ if (!fetchReferenceSequence) {
291
+ return undefined;
292
+ }
293
+ // Packed once for the region rather than per read — the walk compares two
294
+ // bases per byte against the read's own packed SEQ, and this is the only
295
+ // per-base pass in it. Length comes from what came back rather than from
296
+ // what was asked for, so a callback that clips at the end of the contig
297
+ // still leaves the bases it did return usable.
298
+ return packReference(await fetchReferenceSequence(refName, start, end, opts), start);
299
+ }
300
+ /**
301
+ * Fetch reference bases for the reads in `records` that have no MD tag, and
302
+ * bind them to those reads so their substitutions resolve. A no-op unless
303
+ * `fetchReferenceSequence` was configured, and it issues at most one fetch.
304
+ *
305
+ * The span fetched is the union of the reads that need it, NOT the queried
306
+ * range: a read overhanging the range is only bound to a region covering all
307
+ * of it, because the records are shared between queries and a binding that
308
+ * varied by query would make one query's reads answer out of another's region
309
+ * (ADR 0006, ADR 0020). Reads on another reference — `viewAsPairs` mates with
310
+ * `pairAcrossChr` — are left out for the same reason, and unbound.
311
+ *
312
+ * Nothing clamps that union, since only the callback knows what its sequence
313
+ * source can afford; a callback that returns a shorter region than it was
314
+ * asked for leaves the reads it does not cover unbound, which is the same
315
+ * outcome by a route the consumer controls.
316
+ */
317
+ async _applyReferenceSequence(records, chrId, refName, opts = {}) {
318
+ const fetchReferenceSequence = this.fetchReferenceSequence;
319
+ if (!fetchReferenceSequence) {
320
+ return;
321
+ }
322
+ let start = Infinity;
323
+ let end = 0;
324
+ for (let i = 0, l = records.length; i < l; i++) {
325
+ const record = records[i];
326
+ if (record.ref_id === chrId &&
327
+ !record.NUMERIC_MD &&
328
+ record.setReference) {
329
+ if (record.start < start) {
330
+ start = record.start;
331
+ }
332
+ if (record.end > end) {
333
+ end = record.end;
334
+ }
335
+ }
336
+ }
337
+ // every read carries MD, or there are no reads: nothing to fetch
338
+ if (start >= end) {
339
+ return;
340
+ }
341
+ const ref = await this.getReferenceRegion(refName, start, end, opts);
342
+ if (!ref) {
343
+ return;
344
+ }
345
+ for (let i = 0, l = records.length; i < l; i++) {
346
+ const record = records[i];
347
+ if (record.ref_id === chrId &&
348
+ !record.NUMERIC_MD &&
349
+ record.setReference &&
350
+ referenceCovers(ref, record.start, record.end)) {
351
+ record.setReference(ref);
352
+ }
353
+ }
267
354
  }
268
355
  // Parsed records for a chunk, reading and decompressing it only on a miss.
269
356
  // Every path that wants a chunk's features goes through here — mate lookups
@@ -282,7 +369,7 @@ export default class BamFile {
282
369
  const entry = await this.chunkFeatureCache.get(chunk, opts.signal);
283
370
  return entry.features;
284
371
  }
285
- async _fetchChunkFeatures(chunks, chrId, min, max, opts = {}) {
372
+ async _fetchChunkFeatures(chunks, chrId, chr, min, max, opts = {}) {
286
373
  const { viewAsPairs, onProgress } = opts;
287
374
  const result = [];
288
375
  let totalBytes = 0;
@@ -369,6 +456,10 @@ export default class BamFile {
369
456
  result.push(pairs[i]);
370
457
  }
371
458
  }
459
+ // After the pairs, so a mate fetched from another chunk is resolved on the
460
+ // same terms as the reads it was fetched for. A no-op without
461
+ // `fetchReferenceSequence`, which is the default.
462
+ await this._applyReferenceSequence(result, chrId, chr, opts);
372
463
  return result;
373
464
  }
374
465
  async fetchPairs(chrId, records, opts) {
@@ -1 +1 @@
1
- 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1
+ 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