@gmod/cram

# @gmod/cram [![NPM version](https://img.shields.io/npm/v/@gmod/cram.svg?style=flat-square)](https://npmjs.org/package/@gmod/cram) [![Coverage Status](https://img.shields.io/codecov/c/github/GMOD/cram-js/master.svg?style=flat-square)](https://codecov.io/gh/GMOD/cram-js/branch/master) [![Build Status](https://img.shields.io/github/actions/workflow/status/GMOD/cram-js/push.yml?branch=master)](https://github.com/GMOD/cram-js/actions?query=branch%3Amaster+workflow%3APush+) Read CRAM files (indexed or unindexed) with pure JS, works in node or in the browser. - Reads CRAM 3.x and 2.x (3.1 added in v1.6.0) - Does not read CRAM 1.x - Can use .crai indexes out of the box, for efficient sequence fetching, but also has an [index API](#craiindex) that would allow use with other index types - Has preliminary support for bzip2 and lzma codecs. lzma requires the latest @gmod/cram version, and uses webassembly. If you find you are unable to compile it, you can try downgrading ## Install ```bash $ npm install --save @gmod/cram # or $ yarn add @gmod/cram ``` ## Usage ```js const { IndexedCramFile, CramFile, CraiIndex } = require('@gmod/cram') // Use indexedfasta library for seqFetch, if using local file (see below) const { IndexedFasta, BgzipIndexedFasta } = require('@gmod/indexedfasta') // this uses local file paths for node.js for IndexedFasta, for usages using // remote URLs see indexedfasta docs for filehandles and // https://github.com/gmod/generic-filehandle2 const t = new IndexedFasta({ path: '/filesystem/yourfile.fa', faiPath: '/filesystem/yourfile.fa.fai', }) // example of fetching records from an indexed CRAM file. // NOTE: only numeric IDs for the reference sequence are accepted. // For indexedfasta the numeric ID is the order in which the sequence names // appear in the header // Wrap in an async and then run run = async () => { const idToName = [] const nameToId = {} // example opening local files on node.js // can also pass `cramUrl` (for the IndexedCramFile class), and `url` (for // the CraiIndex) params to open remote URLs // // alternatively `cramFilehandle` (for the IndexedCramFile class) and // `filehandle` (for the CraiIndex) can be used, see for examples // https://github.com/gmod/generic-filehandle2 const indexedFile = new IndexedCramFile({ cramPath: '/filesystem/yourfile.cram', //or //cramUrl: 'url/to/file.cram' //cramFilehandle: a generic-filehandle2 or similar filehandle index: new CraiIndex({ path: '/filesystem/yourfile.cram.crai', // or // url: 'url/to/file.cram.crai' // filehandle: a generic-filehandle2 or similar filehandle }), seqFetch: async (seqId, start, end) => { // note: // * seqFetch should return a promise for a string, in this instance retrieved from IndexedFasta // * we use start-1 because cram-js uses 1-based but IndexedFasta uses 0-based coordinates // * the seqId is a numeric identifier, so we convert it back to a name with idToName // * you can return an empty string from this function for testing if you want, but you may not get proper interpretation of record.readFeatures return t.getSequence(idToName[seqId], start - 1, end) }, checkSequenceMD5: false, }) const samHeader = await indexedFile.cram.getSamHeader() // use the @SQ lines in the header to figure out the // mapping between ref ID numbers and names const sqLines = samHeader.filter(l => l.tag === 'SQ') sqLines.forEach((sqLine, refId) => { sqLine.data.forEach(item => { if (item.tag === 'SN') { // this is the ref name const refName = item.value nameToId[refName] = refId idToName[refId] = refName } }) }) const records = await indexedFile.getRecordsForRange( nameToId['chr1'], 10000, 20000, ) records.forEach(record => { console.log(`got a record named ${record.readName}`) if (record.readFeatures != undefined) { record.readFeatures.forEach(({ code, pos, refPos, ref, sub }) => { // process the read features. this can be used similar to // CIGAR/MD strings in SAM. see CRAM specs for more details. if (code === 'X') { console.log( `${record.readName} shows a base substitution of ${ref}->${sub} at ${refPos}`, ) } }) } }) } run() // can also pass `cramUrl` (for the IndexedCramFile class), and `url` (for the CraiIndex) params to open remote URLs // alternatively `cramFilehandle` (for the IndexedCramFile class) and `filehandle` (for the CraiIndex) can be used, see for examples https://github.com/gmod/generic-filehandle2 ``` You can use cram-js without NPM also with the cram-bundle.js. See the example directory for usage with script tag ## API (auto-generated) - [CramRecord](#cramrecord) - format of CRAM records returned by this API - [ReadFeatures](#readfeatures) - format of read features on records - [IndexedCramFile](#indexedcramfile) - indexed access into a CRAM file - [CramFile](#cramfile) - .cram API - [CraiIndex](#craiindex) - .crai index API - [Error Classes](#error-classes) - special error classes thrown by this API ### CramRecord  ##### Table of Contents - [CramRecord](#cramrecord) - [Parameters](#parameters) - [isPaired](#ispaired) - [isProperlyPaired](#isproperlypaired) - [isSegmentUnmapped](#issegmentunmapped) - [isMateUnmapped](#ismateunmapped) - [isReverseComplemented](#isreversecomplemented) - [isMateReverseComplemented](#ismatereversecomplemented) - [isRead1](#isread1) - [isRead2](#isread2) - [isSecondary](#issecondary) - [isFailedQc](#isfailedqc) - [isDuplicate](#isduplicate) - [isSupplementary](#issupplementary) - [isDetached](#isdetached) - [hasMateDownStream](#hasmatedownstream) - [isPreservingQualityScores](#ispreservingqualityscores) - [isUnknownBases](#isunknownbases) - [getReadBases](#getreadbases) - [getPairOrientation](#getpairorientation) - [addReferenceSequence](#addreferencesequence) - [Parameters](#parameters-1) #### CramRecord Class of each CRAM record returned by this API. ##### Parameters - `$0` **any**  - `$0.flags`   - `$0.cramFlags`   - `$0.readLength`   - `$0.mappingQuality`   - `$0.lengthOnRef`   - `$0.qualityScores`   - `$0.mateRecordNumber`   - `$0.readBases`   - `$0.readFeatures`   - `$0.mateToUse`   - `$0.readGroupId`   - `$0.readName`   - `$0.sequenceId`   - `$0.uniqueId`   - `$0.templateSize`   - `$0.alignmentStart`   - `$0.tags`   ##### isPaired Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read is paired, regardless of whether both segments are mapped ##### isProperlyPaired Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read is paired, and both segments are mapped ##### isSegmentUnmapped Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read itself is unmapped; conflictive with isProperlyPaired ##### isMateUnmapped Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read itself is unmapped; conflictive with isProperlyPaired ##### isReverseComplemented Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read is mapped to the reverse strand ##### isMateReverseComplemented Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the mate is mapped to the reverse strand ##### isRead1 Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if this is read number 1 in a pair ##### isRead2 Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if this is read number 2 in a pair ##### isSecondary Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if this is a secondary alignment ##### isFailedQc Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if this read has failed QC checks ##### isDuplicate Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read is an optical or PCR duplicate ##### isSupplementary Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if this is a supplementary alignment ##### isDetached Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read is detached ##### hasMateDownStream Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read has a mate in this same CRAM segment ##### isPreservingQualityScores Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read contains qual scores ##### isUnknownBases Returns **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)** true if the read has no sequence bases ##### getReadBases Get the original sequence of this read. Returns **[String](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/String)** sequence basepairs ##### getPairOrientation Get the pair orientation of a paired read. Adapted from igv.js Returns **[String](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/String)** of paired orientatin ##### addReferenceSequence Annotates this feature with the given reference sequence basepair information. This will add a `sub` and a `ref` item to base substitution read features given the actual substituted and reference base pairs, and will make the `getReadSequence()` method work. ###### Parameters - `refRegion` **[object](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Object)**  - `refRegion.start` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)**  - `refRegion.end` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)**  - `refRegion.seq` **[string](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/String)**  - `compressionScheme` **CramContainerCompressionScheme**  Returns **[undefined](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/undefined)** nothing ### ReadFeatures The feature objects appearing in the `readFeatures` member of CramRecord objects that show insertions, deletions, substitutions, etc. #### Static fields - **code** (`character`): One of "bqBXIDiQNSPH". See page 15 of the CRAM v3 spec for their meanings. - **data** (`any`): the data associated with the feature. The format of this varies depending on the feature code. - **pos** (`number`): location relative to the read (1-based) - **refPos** (`number`): location relative to the reference (1-based) ### IndexedCramFile  ##### Table of Contents - [constructor](#constructor) - [Parameters](#parameters) - [getRecordsForRange](#getrecordsforrange) - [Parameters](#parameters-1) - [hasDataForReferenceSequence](#hasdataforreferencesequence) - [Parameters](#parameters-2) #### constructor ##### Parameters - `args` **[object](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Object)**  - `args.cram` **CramFile**  - `args.index` **Index-like** object that supports getEntriesForRange(seqId,start,end) -> Promise\[Array\[index entries]] - `args.cacheSize` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)?** optional maximum number of CRAM records to cache. default 20,000 - `args.checkSequenceMD5` **[boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)?** default true. if false, disables verifying the MD5 checksum of the reference sequence underlying a slice. In some applications, this check can cause an inconvenient amount (many megabases) of sequences to be fetched. #### getRecordsForRange ##### Parameters - `seq` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)** numeric ID of the reference sequence - `start` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)** start of the range of interest. 1-based closed coordinates. - `end` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)** end of the range of interest. 1-based closed coordinates. - `opts` **{viewAsPairs: [boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)?, pairAcrossChr: [boolean](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Boolean)?, maxInsertSize: [number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)?}** (optional, default `{}`) #### hasDataForReferenceSequence ##### Parameters - `seqId` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)**  Returns **[Promise](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Promise)** true if the CRAM file contains data for the given reference sequence numerical ID ### CramFile  ##### Table of Contents - [containerCount](#containercount) #### containerCount Returns **[Promise](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Promise)<([number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number) | [undefined](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/undefined))>**  ### CraiIndex  ##### Table of Contents - [constructor](#constructor) - [Parameters](#parameters) - [hasDataForReferenceSequence](#hasdataforreferencesequence) - [Parameters](#parameters-1) - [getEntriesForRange](#getentriesforrange) - [Parameters](#parameters-2) #### constructor ##### Parameters - `args` **[object](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Object)**  - `args.path` **[string](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/String)?**  - `args.url` **[string](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/String)?**  - `args.filehandle` **FileHandle?**  #### hasDataForReferenceSequence ##### Parameters - `seqId` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)**  Returns **[Promise](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Promise)** true if the index contains entries for the given reference sequence ID, false otherwise #### getEntriesForRange fetch index entries for the given range ##### Parameters - `seqId` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)**  - `queryStart` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)**  - `queryEnd` **[number](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Number)**  Returns **[Promise](https://developer.mozilla.org/docs/Web/JavaScript/Reference/Global_Objects/Promise)** promise for an array of objects of the form `{start, span, containerStart, sliceStart, sliceBytes }` ### CramUnimplementedError **Extends Error** Error caused by encountering a part of the CRAM spec that has not yet been implemented ### CramMalformedError **Extends CramError** An error caused by malformed data. ### CramBufferOverrunError **Extends CramMalformedError** An error caused by attempting to read beyond the end of the defined data. ## Academic Use This package was written with funding from the [NHGRI](http://genome.gov) as part of the [JBrowse](http://jbrowse.org) project. If you use it in an academic project that you publish, please cite the most recent JBrowse paper, which will be linked from [jbrowse.org](http://jbrowse.org). ## License MIT © [Robert Buels](https://github.com/rbuels)