@fishka/seqio 0.1.0

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package/README.md ADDED
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+ # @fishka/seqio
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+
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+ Sequencing I/O — parsers and writers for bioinformatics file formats.
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+
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+ Currently supports:
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+
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+ - **ABIF** (`.ab1` / `.abi`) — chromatogram traces produced by ABI Sanger / fragment analysis instruments. Lossless round-trip, browser- and Node-compatible.
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+
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+ Planned: SCF, FASTA, FASTQ.
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+
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+ ## Install
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+
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+ ```sh
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+ npm install @fishka/seqio
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+ ```
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+
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+ ## Use
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+
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+ ### Quick parse (typed view + metadata)
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+
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+ ```ts
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+ import { parseAbif } from '@fishka/seqio/abif';
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+ // or: import { parseAbif } from '@fishka/seqio';
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+
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+ const result = parseAbif(uint8ArrayOrArrayBuffer, 'sample.ab1');
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+
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+ result.baseCalls?.sequence; // "ACGT..."
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+ result.baseCalls?.confidences; // [40, 38, 41, ...]
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+ result.baseCalls?.positions; // [13, 25, 38, ...] sample-point peaks
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+ result.chromatogram.basecalled.A; // raw int16 trace for the A channel
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+ result.metadata.sampleName; // SMPL tag
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+ result.metadata.samplingRate; // SPAC tag (falls back to PLOC-derived spacing)
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+ ```
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+
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+ ### Low-level (entry-by-entry, round-trip)
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+
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+ ```ts
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+ import { readAbif, writeAbif, findEntry, upsertEntry } from '@fishka/seqio/abif';
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+ import { setSequence, setConfidences, setPositions, setAveragePeakSpacing } from '@fishka/seqio/abif';
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+
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+ const file = readAbif(bytes);
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+ setSequence(file, 'ACGT...');
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+ setConfidences(file, [40, 38, 41, ...]);
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+ setPositions(file, [13, 25, 38, ...]);
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+ setAveragePeakSpacing(file, 12.5, 'my-basecaller');
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+ const out = writeAbif(file);
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+ ```
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+
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+ ## Features
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+
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+ - Browser- and Node-compatible (Uint8Array + DataView, no Node Buffer dependency).
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+ - Lossless round-trip: every directory entry preserved as raw payload.
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+ - MacBinary preamble support.
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+ - BioPython-compatible declared-vs-computed dataSize clamp.
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+ - PLOC read/written as unsigned int16 (preserves traces > 32k scans).
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+ - SPAC accepts both float32 (spec) and long (legacy) element types.
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+ - PCON/PLOC version fallback when PBAS2 ships without matching PCON2/PLOC2.
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+ - `ensureRawDataChannels()` helper for older DATA1..8-only files.
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+
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+ ## License
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+
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+ MIT
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+ /**
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+ * Low-level ABIF file model: a flat list of directory entries with raw
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+ * payloads. Lossless round-trip is preserved: every entry (including unknown
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+ * vendor tags) is kept as a raw payload, so a subsequent writeAbif() reproduces
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+ * the same meaning.
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+ */
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+ interface AbifFile {
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+ /** ABIF version, e.g. 101 for v1.01. */
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+ version: number;
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+ /** Directory entries in the original on-disk order. */
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+ entries: AbifEntry[];
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+ /** MacBinary preamble offset (128 if present, 0 otherwise). Preserved for diagnostics. */
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+ macBinaryOffset: number;
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+ }
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+ interface AbifEntry {
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+ /** 4-character tag name, e.g. "DATA", "PBAS". */
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+ tagName: string;
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+ /** Tag number, e.g. 1 or 2 for PBAS1 / PBAS2. */
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+ tagNumber: number;
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+ /** ABIF element type code (1=byte, 2=char, 3=word, 4=short, 5=long, 7=float,
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+ * 8=double, 10=date, 11=time, 13=bool, 18=pString, 19=cString,
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+ * 1023=tdir, ≥1024=user-defined). */
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+ elementType: number;
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+ /** Bytes per element. */
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+ elementSize: number;
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+ /** Number of elements. */
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+ elementCount: number;
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+ /** Raw payload bytes (length === elementCount * elementSize). */
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+ payload: Uint8Array;
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+ /** Opaque dataHandle field, usually 0. Preserved for round-trip. */
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+ dataHandle: number;
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+ }
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+ interface ChannelSignals {
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+ A: number[];
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+ C: number[];
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+ G: number[];
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+ T: number[];
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+ }
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+ /** Per-base chromatogram view. */
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+ interface Chromatogram {
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+ /** Per-base peak position in sample points (from PLOC). */
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+ positions: number[];
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+ /** Four channels of signal values, aligned with sample points. */
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+ signals: ChannelSignals;
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+ /** Per-base Phred-like quality scores (0..100), from PCON. */
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+ confidences?: number[];
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+ /** Average peak spacing (samples per base), from SPAC. */
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+ samplingRate?: number;
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+ }
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+ /** Basecalls extracted from PBAS/PCON/PLOC under the chosen version. */
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+ interface AbifBaseCalls {
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+ /** Called bases (uppercase). */
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+ sequence: string;
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+ /** Per-base Q-score / confidence (PCON). */
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+ confidences: number[];
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+ /** Per-base peak positions in sample points (PLOC). */
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+ positions: number[];
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+ /** Which PBAS version was selected (1 or 2). */
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+ pbasVersion: number;
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+ }
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+ /** Optional metadata extracted from well-known tags. */
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+ interface AbifMetadata {
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+ sampleName?: string;
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+ laneNumber?: number;
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+ tube?: string;
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+ machineName?: string;
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+ machineModel?: string;
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+ runDate?: string;
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+ runTime?: string;
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+ samplingRate?: number;
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+ comments: string[];
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+ }
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+ /** Full chromatogram bundle: all DATA channels, plus FWO_-aware A/C/G/T views. */
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+ interface AbifChromatogramBundle {
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+ /** FWO_ value (e.g. "GATC"). */
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+ baseOrder: string;
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+ /** All DATA tags by tagNumber → trace. */
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+ dataChannels: Record<number, number[]>;
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+ /** Basecalled traces (DATA9..12) mapped to A/C/G/T by FWO_. */
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+ basecalled: ChannelSignals;
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+ /** Raw traces (DATA1..4) mapped to A/C/G/T by FWO_. */
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+ raw: ChannelSignals;
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+ }
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+ /** Rich result from {@link parseAbif} — everything the typical viewer needs. */
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+ interface ParsedAbif {
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+ fileName: string;
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+ fileSize: number;
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+ abifVersion: number;
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+ macBinaryOffset: number;
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+ dirEntryCount: number;
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+ metadata: AbifMetadata;
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+ chromatogram: AbifChromatogramBundle;
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+ baseCalls?: AbifBaseCalls;
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+ /** All directory entries with their decoded payloads (best-effort by type). */
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+ entries: AbifDirEntry[];
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+ }
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+ /** A directory entry with a typed decoded value alongside the raw payload. */
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+ interface AbifDirEntry {
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+ /** 4-character tag name, e.g. "DATA". */
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+ tag: string;
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+ tagNumber: number;
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+ elementType: number;
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+ elementTypeName: string;
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+ elementSize: number;
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+ elementCount: number;
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+ dataSize: number;
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+ dataOffset: number;
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+ inline: boolean;
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+ decoded: AbifDecodedValue;
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+ preview: string;
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+ }
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+ type AbifDecodedValue = {
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+ kind: 'number';
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+ value: number;
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+ } | {
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+ kind: 'numbers';
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+ value: number[];
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+ } | {
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+ kind: 'string';
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+ value: string;
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+ } | {
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+ kind: 'bools';
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+ value: boolean[];
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+ } | {
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+ kind: 'date';
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+ value: {
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+ year: number;
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+ month: number;
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+ day: number;
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+ };
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+ } | {
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+ kind: 'time';
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+ value: {
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+ hour: number;
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+ minute: number;
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+ second: number;
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+ hsec: number;
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+ };
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+ } | {
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+ kind: 'bytes';
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+ value: Uint8Array;
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+ } | {
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+ kind: 'unknown';
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+ value: Uint8Array;
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+ };
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+
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+ declare function tagNameFromInt32(n: number): string;
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+
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+ /**
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+ * Low-level ABIF reader/writer.
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+ *
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+ * Round-trip without loss: every directory entry (including unknown vendor
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+ * tags) is preserved as a raw payload (Uint8Array). The high-level layer
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+ * (view.ts, parser.ts) provides typed access on top of this.
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+ *
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+ * ABIF file layout:
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+ * [0..3] "ABIF" magic
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+ * [4..5] version (int16 BE; 101 = v1.01)
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+ * [6..33] TdirEntry describing the directory itself
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+ * [34..127] reserved (94 bytes, zero-filled)
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+ * [...] directory block (N * 28-byte entries) and payload blocks
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+ *
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+ * TdirEntry (28 bytes, big-endian):
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+ * off size field
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+ * 0 4 tagName (ASCII)
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+ * 4 4 tagNumber (int32)
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+ * 8 2 elementType (int16)
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+ * 10 2 elementSize (int16)
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+ * 12 4 elementCount (int32)
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+ * 16 4 dataSize (int32; total payload bytes; spec says count*size)
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+ * 20 4 dataOffset (int32) OR inline data if dataSize <= 4
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+ * 24 4 dataHandle (int32; usually 0)
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+ *
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+ * Inline rule (per ABIF spec): when count*size <= 4 the payload bytes are
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+ * stored directly in the dataOffset field (left-aligned, padded to 4 bytes).
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+ *
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+ * MacBinary preamble: some ABIF files (older Mac-origin) start with a 128-byte
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+ * MacBinary header before the actual ABIF magic. We detect and skip it.
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+ */
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+
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+ declare const HEADER_SIZE = 128;
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+ declare const ENTRY_SIZE = 28;
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+ /**
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+ * Parse an ABIF file from raw bytes.
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+ *
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+ * Accepts Uint8Array (works in Node and the browser). Node's Buffer extends
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+ * Uint8Array, so `readAbif(buffer)` and `readAbif(new Uint8Array(arrayBuffer))`
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+ * both work.
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+ *
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+ * Throws if the magic header is missing. Does NOT require any specific tags
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+ * (PBAS, DATA, ...) to be present — raw pre-basecalled files are supported.
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+ */
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+ declare function readAbif(bytes: Uint8Array): AbifFile;
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+ /**
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+ * Serialize an AbifFile back to a Uint8Array.
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+ *
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+ * Layout produced: header (128 B) + directory (N*28 B) + payload block.
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+ * External payloads are packed tightly in entry order. Inline payloads
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+ * (count*size <= 4) live entirely inside their directory entry.
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+ *
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+ * The output is not bit-identical to the input if the original had a different
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+ * physical layout (e.g. payloads before directory), but the *meaning*
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+ * round-trips: readAbif(writeAbif(f)) reproduces the same entries structurally.
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+ *
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+ * MacBinary preamble is not preserved by writeAbif.
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+ */
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+ declare function writeAbif(file: AbifFile): Uint8Array;
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+ /** Find an entry by name+number, or undefined. */
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+ declare function findEntry(file: AbifFile, name: string, number: number): AbifEntry | undefined;
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+ /** Find all entries with the given tag name. */
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+ declare function findEntries(file: AbifFile, name: string): AbifEntry[];
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+ /**
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+ * Replace the payload of an existing entry, or append a new one.
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+ * elementType/elementSize/elementCount must be supplied for new entries.
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+ */
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+ declare function upsertEntry(file: AbifFile, name: string, number: number, payload: Uint8Array, defaults: {
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+ elementType: number;
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+ elementSize: number;
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+ elementCount: number;
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+ }): void;
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+
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+ /**
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+ * High-level typed view over an AbifFile.
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+ *
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+ * Reading helpers that interpret the raw payloads of well-known tags. For
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+ * mutation helpers (setSequence, setConfidences, ...) see ./setters.
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+ */
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+
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+ /** Get DATA<n> as a signed-int16 array, or undefined. */
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+ declare function getDataChannel(file: AbifFile, n: number): Int16Array | undefined;
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+ /**
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+ * Dye order, 4 ASCII chars (e.g. "GATC"). Defaults to "GATC" if FWO_ absent.
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+ *
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+ * GATC is the dye order produced by modern ABI 3730/3500 instruments and the
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+ * dominant default in the wild. Older "ACGT" defaults caused channel
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+ * mis-mapping on files where FWO_ is missing or malformed.
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+ */
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+ declare function getFwo(file: AbifFile): string;
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+ /**
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+ * True when the file carries BOTH DATA1..4 and DATA9..12. Newer ABI-style
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+ * instruments produce both: DATA1..4 is post-processed (mobility-corrected,
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+ * baseline-subtracted, color-separated) and DATA9..12 is raw fluorescence.
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+ * Older instruments produce only DATA1..4 (which IS the raw signal).
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+ *
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+ * Callers that re-process traces (basecallers) should detect this and bypass
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+ * their own baseline-subtraction / color-matrix steps when DATA1..4 is
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+ * already cleaned.
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+ */
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+ declare function hasProcessedTraces(file: AbifFile): boolean;
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+ /**
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+ * Map from base letter ("A"|"C"|"G"|"T") to the DATA tag number that holds
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+ * its RAW fluorescence channel.
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+ *
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+ * ABIF stores up to 12 DATA tags. KB-basecaller-aware instruments (3130, 3500,
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+ * ...) use DATA1..4 for processed traces and DATA9..12 for raw. Older / simpler
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+ * instruments produce only DATA1..8 where DATA1..4 ARE the raw traces.
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+ *
258
+ * This helper always returns the DATA1..4 mapping (the convention used by
259
+ * basecallers operating on raw signal). Use {@link hasProcessedTraces} to
260
+ * detect whether DATA1..4 has been pre-processed and bypass baseline/color
261
+ * steps accordingly.
262
+ *
263
+ * The dye-to-channel order within each block is given by FWO_. If
264
+ * FWO_="GATC" then G→1, A→2, T→3, C→4.
265
+ */
266
+ declare function getRawChannelMap(file: AbifFile): Record<'A' | 'C' | 'G' | 'T', number>;
267
+ /** Get PBAS sequence (prefer PBAS2 over PBAS1). undefined if neither present. */
268
+ declare function getSequence(file: AbifFile): string | undefined;
269
+ /**
270
+ * Get per-base Phred-like quality scores (0..255 byte values, typically 0..60
271
+ * for Sanger). Prefers PCON2 over PCON1.
272
+ *
273
+ * PCON is declared in the ABIF spec as elementType=2 (char) but the byte
274
+ * values ARE the Q-scores — we read raw bytes regardless of declared type.
275
+ */
276
+ declare function getConfidences(file: AbifFile): number[] | undefined;
277
+ /**
278
+ * Get peak scan positions (one per base). Prefers PLOC2 over PLOC1.
279
+ *
280
+ * Read as UNSIGNED int16: PLOC indexes into the sample trace and is always
281
+ * non-negative, but values > 32767 (long traces) would wrap to negative
282
+ * if interpreted as signed.
283
+ */
284
+ declare function getPositions(file: AbifFile): number[] | undefined;
285
+ /**
286
+ * Get average peak spacing (samples per base), from SPAC/1.
287
+ *
288
+ * ABIF spec defines SPAC as float32 (elementType=7); some legacy files
289
+ * mislabel it as long (type=5). Both are 4 bytes and on disk the payload
290
+ * is always a 32-bit float, so we read as float regardless of declared type.
291
+ *
292
+ * Returns undefined if SPAC is absent or non-positive.
293
+ */
294
+ declare function getSamplingRate(file: AbifFile): number | undefined;
295
+
296
+ /**
297
+ * Mutation helpers for AbifFile: write PBAS/PCON/PLOC/SPAC and ensure DATA9..12
298
+ * are present. Used by basecallers to author ABIF output.
299
+ */
300
+
301
+ /** Set PBAS2 (replaces if present). */
302
+ declare function setSequence(file: AbifFile, sequence: string): void;
303
+ /** Set PCON2 (replaces if present). Values clamped to [0, 255]. */
304
+ declare function setConfidences(file: AbifFile, q: ArrayLike<number>): void;
305
+ /**
306
+ * Set PLOC2 (replaces if present).
307
+ *
308
+ * Written as UNSIGNED int16 so positions up to 65535 are preserved on disk
309
+ * (signed int16 would wrap on traces with > 32k scans).
310
+ */
311
+ declare function setPositions(file: AbifFile, positions: ArrayLike<number>): void;
312
+ /**
313
+ * Set SPAC/1, SPAC/2, SPAC/3 — the standard ABIF "average peak spacing" trio
314
+ * that KB-basecaller writes and downstream tools (BioPython, Sequencher,
315
+ * KB-aware viewers) expect:
316
+ *
317
+ * - SPAC/1 (float32) — average peak spacing used in last analysis.
318
+ * - SPAC/2 (pString) — basecaller name / identifier.
319
+ * - SPAC/3 (float32) — average peak spacing computed by the basecaller.
320
+ *
321
+ * Both float fields are written with the same value.
322
+ */
323
+ declare function setAveragePeakSpacing(file: AbifFile, spacing: number, basecallerName: string): void;
324
+ /**
325
+ * Mean consecutive peak-to-peak distance in scans, from a positions array.
326
+ * Returns 0 when fewer than 2 positions are present.
327
+ */
328
+ declare function averagePeakSpacing(positions: ArrayLike<number>): number;
329
+ /**
330
+ * Ensure DATA9..12 are present in the file. Many downstream consumers
331
+ * (BioPython-style readers, viewers) read the chromatogram signal from
332
+ * DATA9..12 by convention — these tags are the raw fluorescence on newer
333
+ * instruments. Older files that only carry DATA1..8 break those consumers
334
+ * with a "no signal" error after re-basecalling.
335
+ *
336
+ * We populate DATA9..12 by copying DATA1..4 (which on DATA1..8-only files IS
337
+ * the raw signal). The DATA1..4 tags are left untouched so any tool that
338
+ * reads them keeps working.
339
+ *
340
+ * No-op when DATA9..12 already exist.
341
+ */
342
+ declare function ensureRawDataChannels(file: AbifFile): void;
343
+
344
+ /**
345
+ * High-level "parse everything" wrapper around the raw + view layers.
346
+ *
347
+ * Returns a single ParsedAbif object with metadata, the FWO_-aware
348
+ * basecalled / raw channel split, basecalls, and decoded directory entries
349
+ * for diagnostics. Mirrors what typical viewers (chromatogram UIs, sample
350
+ * inspectors) need from a single file.
351
+ *
352
+ * For round-trip authoring (basecallers), prefer {@link readAbif} +
353
+ * setters from ./setters which operate directly on the raw AbifFile.
354
+ */
355
+
356
+ /**
357
+ * Parse an ABIF file into a high-level view: metadata, channels, basecalls,
358
+ * and decoded directory entries.
359
+ *
360
+ * Accepts ArrayBuffer or Uint8Array (Buffer in Node works too — it extends
361
+ * Uint8Array). The `fileName` argument is informational only; it's preserved
362
+ * in the result.
363
+ */
364
+ declare function parseAbif(input: ArrayBuffer | Uint8Array, fileName?: string): ParsedAbif;
365
+ /** True when any channel has at least one signal value. */
366
+ declare function hasSignals(s: ChannelSignals): boolean;
367
+ /** Length of the longest channel in a ChannelSignals bundle. */
368
+ declare function channelMaxLength(s: ChannelSignals): number;
369
+
370
+ export { type AbifBaseCalls, type AbifChromatogramBundle, type AbifDecodedValue, type AbifDirEntry, type AbifEntry, type AbifFile, type AbifMetadata, type ChannelSignals, type Chromatogram, ENTRY_SIZE, HEADER_SIZE, type ParsedAbif, averagePeakSpacing, channelMaxLength, ensureRawDataChannels, findEntries, findEntry, getConfidences, getDataChannel, getFwo, getPositions, getRawChannelMap, getSamplingRate, getSequence, hasProcessedTraces, hasSignals, parseAbif, readAbif, setAveragePeakSpacing, setConfidences, setPositions, setSequence, tagNameFromInt32, upsertEntry, writeAbif };