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Merge pull request #1802 from milaboratory/new-illumina-kit-dna
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- added new illumina preset
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mizraelson authored Sep 26, 2024
2 parents 1582589 + 8d40a9f commit 4532c5b
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1 change: 1 addition & 0 deletions changelogs/v4.7.1.md
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## 📚 New Presets

- Added preset `bruker-human-sc-xcr-vdj-beacon` for TCR/BCR analyses of Bruker Beacon data
- Added preset `illumina-human-dna-trb-ampliseq-sr`
336 changes: 336 additions & 0 deletions regression/presets/analyze/illumina-human-dna-trb-ampliseq-sr.yaml
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flags: []
pipeline:
- align
- assemble
- exportClones
align:
species: hs
libraryName: default
trimmingQualityThreshold: 10
trimmingWindowSize: 6
chains: ALL
replaceWildcards: true
overlapPairedReads: true
bamDropNonVDJ: false
writeFailedAlignments: false
tagPattern: null
tagUnstranded: false
tagMaxBudget: 10.0
headerExtractors: []
readIdAsCellTag: false
sampleTable: null
tagsValidations: []
splitBySample: true
limit: null
parameters:
vParameters:
geneFeatureToAlign: VGeneWithP
minSumScore: 150
relativeMinScore: 0.97
maxHits: 5
parameters:
type: kaligner2
mapperNValue: 8
mapperKValue: 1
floatingLeftBound: true
floatingRightBound: true
mapperAbsoluteMinClusterScore: 102
mapperExtraClusterScore: -38
mapperMatchScore: 98
mapperMismatchScore: -14
mapperOffsetShiftScore: -82
mapperSlotCount: 8
mapperMaxClusters: 11
mapperMaxClusterIndels: 4
mapperKMersPerPosition: 4
mapperAbsoluteMinScore: 103
mapperRelativeMinScore: 0.81
mapperMinSeedsDistance: 8
mapperMaxSeedsDistance: 8
alignmentStopPenalty: 0
absoluteMinScore: 150
relativeMinScore: 0.8
maxHits: 2
scoring:
type: affine
alphabet: nucleotide
subsMatrix: "simple(match = 10, mismatch = -19)"
gapOpenPenalty: -62
gapExtensionPenalty: -11
dParameters:
geneFeatureToAlign: DRegionWithP
relativeMinScore: 0.85
absoluteMinScore: 25.0
maxHits: 3
scoring:
type: linear
alphabet: nucleotide
subsMatrix: "simple(match = 5, mismatch = -9)"
gapPenalty: -12
jParameters:
geneFeatureToAlign: JRegionWithP
minSumScore: 150
relativeMinScore: 0.97
maxHits: 5
parameters:
type: kaligner2
mapperNValue: 8
mapperKValue: 1
floatingLeftBound: true
floatingRightBound: true
mapperAbsoluteMinClusterScore: 102
mapperExtraClusterScore: -38
mapperMatchScore: 95
mapperMismatchScore: -14
mapperOffsetShiftScore: -82
mapperSlotCount: 6
mapperMaxClusters: 4
mapperMaxClusterIndels: 4
mapperKMersPerPosition: 4
mapperAbsoluteMinScore: 100
mapperRelativeMinScore: 0.8
mapperMinSeedsDistance: 5
mapperMaxSeedsDistance: 5
alignmentStopPenalty: 0
absoluteMinScore: 150
relativeMinScore: 0.8
maxHits: 3
scoring:
type: affine
alphabet: nucleotide
subsMatrix: "simple(match = 10, mismatch = -19)"
gapOpenPenalty: -62
gapExtensionPenalty: -11
vjAlignmentOrder: VThenJ
libraryStructure: Unknown
includeDScore: false
includeCScore: false
minSumScore: 120.0
relativeMinVFR3CDR3Score: 0.7
allowPartialAlignments: false
allowNoCDR3PartAlignments: false
allowChimeras: false
readsLayout: DirectOnly
mergerParameters:
qualityMergingAlgorithm: MaxSubtraction
partsLayout: null
minimalOverlap: 13
minimalMatchQualitySum: 364
maxQuality: 50
minimalIdentity: 0.7
identityType: MinimalQualityWeighted
fixSeed: true
alignmentBoundaryTolerance: 5
minChimeraDetectionScore: 120
vjOverlapWindow: 3
saveOriginalSequence: false
saveOriginalReads: false
smartForceEdgeAlignments: true
retriesForPartialAlignments: 3
retriesAlignmentOfNotCoveredPart: 2
refineTagsAndSort:
whitelists: {}
runCorrection: true
parameters:
correctionPower: 0.001
backgroundSubstitutionRate: 0.001
backgroundIndelRate: 1.0E-5
minQuality: 12
maxSubstitutions: 2
maxIndels: 2
maxTotalErrors: 3
postFilter: null
assemblePartial:
overlappedOnly: false
dropPartial: false
cellLevel: false
parameters:
kValue: 12
kOffset: -7
minimalAssembleOverlap: 12
minimalNOverlap: 7
minimalNOverlapShare: 0.65
minimalAlignmentMergeIdentity: 0.85
mergerParameters:
qualityMergingAlgorithm: SumSubtraction
partsLayout: CollinearDirect
minimalOverlap: 20
minimalMatchQualitySum: 0
maxQuality: 45
minimalIdentity: 0.95
identityType: Unweighted
maxLeftParts: 256000
maxLeftMatches: 6144
extend:
vAnchor: CDR3Begin
jAnchor: FR4Begin
minimalVScore: 50
minimalJScore: 50
assemble:
sortBySequence: false
clnaOutput: false
cellLevel: false
consensusAssemblerParameters: null
cloneAssemblerParameters:
assemblingFeatures:
- CDR3
minimalClonalSequenceLength: 12
qualityAggregationType: BetaScore
cloneClusteringParameters:
searchDepth: 2
allowedMutationsInNRegions: 1
searchParameters: twoMismatchesOrIndels
clusteringFilter:
type: advanced
correctionPower: 0.001
backgroundSubstitutionRate: 0.002
backgroundIndelRate: 2.0E-4
cloneFactoryParameters:
vParameters:
maxAlignmentWidthLinear: 5
maxAlignmentWidthAffine: 500
jParameters:
maxAlignmentWidthLinear: 5
maxAlignmentWidthAffine: 500
cParameters:
maxAlignmentWidthLinear: 5
maxAlignmentWidthAffine: 500
dParameters:
relativeMinScore: null
absoluteMinScore: null
maxHits: null
scoring: null
separateByV: false
separateByJ: false
separateByC: false
maximalPreClusteringRatio: 1.0
preClusteringScoreFilteringRatio: 2.0
preClusteringCountFilteringRatio: 2.0
addReadsCountOnClustering: false
badQualityThreshold: 15
maxBadPointsPercent: 0.7
mappingThreshold: 2of5
minimalQuality: 20
postFilters: null
inferMinRecordsPerConsensus: false
assembleContigs:
ignoreTags: false
parameters:
branchingMinimalQualityShare: 0.1
branchingMinimalSumQuality: 60
decisiveBranchingSumQualityThreshold: 120
alignedSequenceEdgeDelta: 3
alignmentEdgeRegionSize: 7
minimalNonEdgePointsFraction: 0.25
minimalMeanNormalizedQuality: 5.0
outputMinimalQualityShare: 0.75
outputMinimalSumQuality: 0
subCloningRegions: null
assemblingRegions: null
postFiltering:
type: NoFiltering
trimmingParameters:
averageQualityThreshold: 10.0
windowSize: 8
minimalContigLength: 20
alignedRegionsOnly: false
discardAmbiguousNucleotideCalls: false
cloneFactoryParameters:
vParameters:
relativeMinScore: 0.97
maxAlignmentWidthLinear: 5
maxAlignmentWidthAffine: 500
jParameters:
maxAlignmentWidthLinear: 5
maxAlignmentWidthAffine: 500
cParameters:
maxAlignmentWidthLinear: 5
maxAlignmentWidthAffine: 500
dParameters:
relativeMinScore: null
absoluteMinScore: null
maxHits: null
scoring: null
exportAlignments:
chains: ALL
noHeader: false
fields:
- field: -readIds
- field: -targetSequences
- field: -targetQualities
- field: -vHitsWithScore
- field: -dHitsWithScore
- field: -jHitsWithScore
- field: -cHitsWithScore
- field: -vAlignments
- field: -dAlignments
- field: -jAlignments
- field: -cAlignments
- field: -allNFeaturesWithMinQuality
- field: -allAAFeatures
- field: -defaultAnchorPoints
- field: -topChains
exportClones:
splitByTagType: null
filterOutOfFrames: false
filterStops: false
chains: ALL
noHeader: false
fields:
- field: -cloneId
- field: -readCount
- field: -readFraction
- field: -targetSequences
- field: -targetQualities
- field: -vHitsWithScore
- field: -dHitsWithScore
- field: -jHitsWithScore
- field: -cHitsWithScore
- field: -vAlignments
- field: -dAlignments
- field: -jAlignments
- field: -cAlignments
- field: -allNFeaturesWithMinQuality
- field: -allAAFeatures
- field: -defaultAnchorPoints
splitFilesBy:
- chain
groupClonesBy: []
qc:
checks:
- type: SuccessfullyAlignedReads
upper: 0.85
middle: 0.7
label: Successfully aligned reads
- type: OffTargetReads
upper: 0.2
middle: 0.1
label: Off target (non TCR/IG) reads
- type: ReadsWithNoVOrJHits
upper: 0.2
middle: 0.1
label: Reads with no V or J hits
- type: ReadsUsedInClonotypes
upper: 0.9
middle: 0.7
label: Reads used in clonotypes
- type: AlignmentsWithNoAssemblingFeature
upper: 0.15
middle: 0.05
label: Alignments without assembling feature
- type: AlignmentsDroppedLowQuality
upper: 0.05
middle: 0.01
label: Alignments dropped due to low sequence quality
- type: ClonesDroppedInPostFiltering
upper: 0.05
middle: 0.01
label: Clones dropped in post-filtering
- type: AlignmentsDroppedInPostFiltering
upper: 0.05
middle: 0.01
label: Alignments dropped in clones post-filtering
- type: OverlappedReadsMoreBetter
upper: 0.9
middle: 0.8
label: Overlapped paired-end reads
4 changes: 3 additions & 1 deletion regression/presets/list.txt
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Expand Up @@ -243,7 +243,9 @@ idt-human-rna-bcr-umi-archer (Archer IMMUNOVerse BCR panel)
-----Illumina-----
illumina-human-rna-trb-ampliseq-plus (Human TCR Beta Ampliseq Plus)

illumina-human-rna-trb-ampliseq-sr (Human TCR Beta Ampliseq Short Read)
illumina-human-rna-trb-ampliseq-sr (Human TCR Beta RNA Ampliseq Short Read)

illumina-human-dna-trb-ampliseq-sr (Human TCR Beta DNA Ampliseq Short Read)

-----Public-----
vergani-et-al-2017-full-length (Vergani et al., 2017)
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10 changes: 9 additions & 1 deletion src/main/resources/presets/protocols/illumina.yaml
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"illumina-human-rna-trb-ampliseq-sr":
vendor: "Illumina"
label: "Human TCR Beta Ampliseq Short Read"
label: "Human TCR Beta RNA Ampliseq Short Read"
category: non-generic
inheritFrom: generic-amplicon
pipeline:
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parameters:
readsLayout: DirectOnly

"illumina-human-dna-trb-ampliseq-sr":
vendor: "Illumina"
label: "Human TCR Beta DNA Ampliseq Short Read"
category: non-generic
inheritFrom: illumina-human-rna-trb-ampliseq-sr
mixins:
- type: MaterialTypeDNA

"illumina-human-rna-trb-ampliseq-plus":
vendor: "Illumina"
label: "Human TCR Beta Ampliseq Plus"
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