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url: https://statfungen.github.io/pecotmr
template:
bootstrap: 5
light-switch: true
math-rendering: katex
bslib:
base_font: { google: "Roboto" }
heading_font: { google: "Roboto Slab" }
code_font: { google: "JetBrains Mono" }
development:
mode: auto
home:
links:
- text: Learn more
href: https://github.com/StatFunGen/pecotmr
- text: Report a bug
href: https://github.com/StatFunGen/pecotmr/issues
navbar:
structure:
left: [intro, reference, articles]
right: [search, github, lightswitch]
components:
intro:
icon: fa fa-play-circle
text: Get Started
href: articles/fine-mapping.html
aria-label: Get started with pecotmr
reference:
icon: fa fa-file-code
text: Functions
href: reference/index.html
aria-label: Function reference
articles:
icon: fa fa-book-reader
text: Vignettes
href: articles/index.html
aria-label: Articles and vignettes
github:
icon: fab fa-github
href: https://github.com/StatFunGen/pecotmr
aria-label: View source on GitHub
articles:
- title: "Quality Control"
desc: >
Allele alignment and LD-mismatch QC for GWAS and QTL summary
statistics.
contents:
- rss-qc
- title: "Fine-mapping"
desc: >
SuSiE-family fine-mapping for individual-level QTL data, QTL
summary statistics, and GWAS summary statistics.
contents:
- fine-mapping
- title: "TWAS"
desc: >
Training TWAS weights from QTL data (individual-level and
summary-statistics, single and multi-context) and computing
per-gene TWAS Z-scores from GWAS summary statistics.
contents:
- twas-weights
- twas-zscore
- title: "Colocalization"
desc: >
Pairwise QTL/GWAS colocalization (coloc.bf_bf) and multi-trait
colocalization with ColocBoost.
contents:
- coloc-pipeline
- colocboost-pipeline
- title: "Enrichment Analysis"
contents:
- xqtl-enrichment
- title: "Resources"
navbar: ~
contents:
- qtl-gwas-resources
reference:
- title: "Class definitions"
desc: >
S4 class definitions. The `-class` topic documents the slots and
validity constraints; the matching constructor topic (next
section) documents the user-facing factory function.
contents:
- AnnotationMatrix-class
- FineMappingResultBase-class
- GenotypeHandle-class
- H2Estimate-class
- LdData-class
- LdEigen-class
- LdScore-class
- LdStatistic-class
- MashPrior-class
- MultiStudyQtlDataset-class
- SldscData-class
- SumStatsBase-class
- title: "Class constructors"
desc: >
User-facing constructors. For classes that have both a `-class`
topic and a constructor topic, prefer the constructor for
day-to-day use; the `-class` topic is the authoritative slot
reference.
contents:
- AnnotationMatrix
- FineMappingEntry
- GenotypeHandle
- GwasFineMappingResult
- GwasSumStats
- LdData
- MashPrior
- MultiStudyQtlDataset
- QtlDataset
- QtlFineMappingResult
- QtlSumStats
- SldscData
- TwasWeights
- TwasWeightsEntry
- title: "Class methods"
desc: >
Accessor and behaviour methods grouped by the class they're
defined on. Generics with implementations on multiple classes
appear under each. S4 pipeline dispatch methods
(`fineMappingPipeline`, `colocboostPipeline`,
`twasWeightsPipeline`) are listed under "Pipelines" further
down rather than repeated per class.
- subtitle: "AnnotationMatrix"
contents:
- getAnnotationMeta
- getAnnotations
- getBaseline
- getCandidates
- getGenome
- getSnpRanges
- subtitle: "FineMappingEntry"
contents:
- adjustPips
- getCs
- getMarginalEffects
- getPip
- getSusieFit
- getTopLoci
- getVariantIds
- subtitle: "FineMappingResultBase"
contents:
- getLdSketch
- getMethodNames
- getStudy
- writeSumstatsVcf
- subtitle: "GenotypeHandle"
contents:
- getFormat
- getNSamples
- getPath
- getPgenPtr
- getSampleIds
- getSnpInfo
- readGenotypes
- subtitle: "GwasFineMappingResult"
contents:
- getContexts
- getFineMappingResult
- getTraits
- subtitle: "GwasSumStats"
contents:
- getMaf
- getN
- getSumStats
- getSumstatDf
- getVarY
- getZ
- nSnps
- subsetChr
- subtitle: "H2Estimate"
contents:
- getEnrichment
- getH2
- getLocal
- getScoreStats
- getTauBlocks
- subtitle: "LdBlocks"
contents:
- getBlocks
- subtitle: "LdData"
contents:
- getBlockMetadata
- getCorrelation
- getGenotypeHandle
- getGenotypes
- getMixtureWeights
- getNRef
- getRefPanel
- getSnpIdx
- getVariantInfo
- hasGenotypes
- subtitle: "LdEigen"
contents:
- getEigenList
- subtitle: "LdScore"
contents:
- getLdMatrixList
- getLdScoreWeights
- getLdScores
- subtitle: "LdStatistic"
contents:
- getInSample
- getLdBlocks
- subtitle: "MultiStudyQtlDataset"
contents:
- getQtlDatasets
- subtitle: "QtlDataset"
contents:
- getAf
- getGenotypeCovariates
- getGenotypes
- getPhenotypeCovariates
- getPhenotypes
- getResidualizedGenotypes
- getResidualizedPhenotypes
- getScaleResiduals
- subtitle: "QtlFineMappingResult"
contents:
- getFineMappingResult
- subtitle: "QtlSumStats"
contents:
- getContexts
- getTraits
- subtitle: "SumStatsBase"
contents:
- getQcInfo
- getQcDiagnostics
- subtitle: "SldscData"
contents:
- getAnnotData
- getFrqData
- getTraitRuns
- getTraitNames
- getAnnotCols
- getTraitRun
- subtitle: "MashPrior"
contents:
- getCvFits
- getFullFit
- subtitle: "TwasWeights"
contents:
- getCvResult
- getDataType
- getFits
- getStandardized
- getTwasWeights
- getWeights
- subtitle: "TwasWeightsEntry"
contents:
# Same generic surface as TwasWeights — dispatches on per-row entries.
- getCvResult
- getDataType
- getFits
- getStandardized
- getVariantIds
- getWeights
- title: "Pipelines"
desc: >
End-to-end pipeline entry points. Each takes one or more S4
input classes and returns a SumStats, FineMappingResult,
TwasWeights collection, or a tabular summary.
contents:
- causalInferencePipeline
- colocboostPipeline
- colocPipeline
- ctwasPipeline
- fineMappingPipeline
- mashPipeline
- qtlEnrichmentPipeline
- sldscPostprocessingPipeline
- twasWeightsPipeline
- title: "cTWAS"
desc: >
The four chainable steps that `ctwasPipeline` is built from:
`assembleCtwasInputs` → `estCtwasParam` → `screenCtwasRegions`
→ `finemapCtwasRegions`. Use the steps directly when you want
to override the estimated priors (e.g. fall back to the prefit
EM values after an accurate-EM divergence), inspect the assembled
region data, or run only part of the pipeline.
contents:
- assembleCtwasInputs
- estCtwasParam
- screenCtwasRegions
- finemapCtwasRegions
- title: "Quality control"
desc: >
Summary-statistics QC orchestrator plus the underlying allele
harmonization, LD-mismatch, kriging, SLALOM, DENTIST, RAISS,
and relatedness checks.
contents:
- summaryStatsQc
- alignVariantNames
- ldMismatchQc
- krigingOutlierQc
- slalom
- dentist
- dentistSingleWindow
- autoDecision
- raiss
- mergeVariantInfo
- mergeSusieCs
- parseCsCorr
- filterRelatedness
- title: "LD infrastructure"
desc: >
Loading and manipulating LD matrices, plus design-matrix
conditioning utilities.
contents:
- loadLdMatrix
- loadLdSketch
- checkLd
- enforceDesignFullRank
- ldClumpByScore
- ldLoader
- ldPruneByCorrelation
- filterVariantsByLdReference
- title: "Genotype I/O"
desc: >
Reading and manipulating per-region genotype data outside the
GenotypeHandle accessor surface.
contents:
- extractBlockGenotypes
- computeBlockLdCor
- loadGenotypeRegion
- readAfreq
- getRefVariantInfo
- invertMinmaxScaling
- title: "Variant ID and region helpers"
desc: >
Parsing, formatting, and overlap checks for variant IDs
(`chr:pos:A2:A1`) and genomic regions (`chr:start-end`).
contents:
- parseVariantId
- normalizeVariantId
- classifyVariantType
- regionToDf
- regionsOverlap
- findOverlappingRegions
- title: "Fine-mapping"
desc: >
SuSiE-family fit wrappers (individual-level and summary-stat
variants) plus the shared post-processing that produces the
unified `top_loci` table. The VCF writer for fine-mapping
results is documented under
\code{FineMappingResultBase} in the Class methods section above.
contents:
- susieWeights
- susieRssWeights
- susieInfWeights
- susieInfRssWeights
- susieAshWeights
- susieAshRssWeights
- mvsusieWeights
- mvsusieRssWeights
- fsusieWeights
- fitMvsusie
- fitMvsusieRss
- fitFsusie
- fitSusieInfThenSusieRss
- fsusieGetCs
- fsusieWrapper
- getSusieResult
- buildTopLoci
- extractCsInfo
- extractTopPipInfo
- formatFinemappingOutput
- lbfToAlpha
- postprocessFinemappingFits
- title: "TWAS"
desc: >
Per-method weight-training functions invoked by
`twasWeightsPipeline()`, the cross-validation / ensembling
machinery that combines them, and multi-method p-value
combination. Grouped by method family below. (SuSiE-family
weight functions live under "Fine-mapping" above since they
double as fine-mappers.)
- subtitle: "Penalized regression"
contents:
- lassosumRss
- lassosumRssWeights
- mcpWeights
- mcpRssWeights
- scadWeights
- scadRssWeights
- l0learnWeights
- l0learnRssWeights
- penalizedRss
- subtitle: "Bayesian alphabet"
contents:
- bayesAlphabetWeights
- bayesAWeights
- bayesBWeights
- bayesCWeights
- bayesLWeights
- bayesNWeights
- bayesRWeights
- bLassoWeights
- prsCs
- prsCsWeights
- sdpr
- sdprWeights
- dprWeights
- subtitle: "mr.mash / mr.ash"
contents:
- mrashWeights
- mrAshRssWeights
- mrmashWeights
- mrmashRssWeights
- mrmashWrapper
- buildMrmashPriorMatrices
- computeCovDiag
- computeCovFlash
- subtitle: "Ensembling / cross-validation / prediction"
contents:
- learnTwasWeights
- ensembleWeights
- twasWeightsCv
- twasPredict
- twasZ
- estimateSparsity
- subtitle: "Multi-method p-value combination"
contents:
- combinePValues
- title: "mash helpers"
desc: >
Utilities exposed by the mash track for posterior contrast
construction, mixture management, and meta-analysis.
contents:
- makePairwiseContrastCol
- fitMashContrast
- metaAnalysisPerCell
- sanitizeMashData
- sliceMashData
- updateMashModelCov
- title: "Heritability and enrichment"
desc: >
Heritability estimation, LD-score computation, stratified
LD-score regression utilities, and per-variant QTL/GWAS
enrichment analysis (low-level kernel that powers
\code{qtlEnrichmentPipeline}).
contents:
- estimateH2
- computeLdScores
- computeSldscAnnotSd
- computeSldscMRef
- readAnnotations
- readSldscTrait
- readSldscAnnot
- readSldscFrq
- standardizeSldscTrait
- h2EstimateToSldscTrait
- isBinarySldscAnnot
- metaSldscRandom
- qtlEnrichment
- title: "Bundled datasets and example helpers"
desc: >
Synthetic data shipped with the package for vignettes and
tests. `fixupExampleGenotypePaths()` re-points the bundled
GenotypeHandle paths at the install-time `inst/extdata/`
location.
contents:
- fixupExampleGenotypePaths
- qtl_dataset_example
- qtl_sumstats_example
- qtl_sumstats_multicontext_example
- gwas_sumstats_s4_example
- multi_study_qtl_dataset_example
- eqtl_region_example
- gwas_sumstats_example
- gwas_finemapping_example
- qtl_finemapping_example
- multitraite_data
- title: internal
desc: >
Deprecated entry points retained for backward compatibility.
Each emits a `.Deprecated()` warning and forwards to the
canonical replacement. Hidden from the reference index but
still searchable and rendered.
contents:
- alleleQc
- matchRefPanel
- xqtlEnrichmentWrapper
- computeQtlEnrichment
- colocWrapper
- colocPostProcessor
- enlocPipeline
- ctwasBimfileLoader
- getCtwasMetaData
- mergeCtwasBoundaryRegions
- loadRegionalAssociationData
- loadRegionalUnivariateData
- loadRegionalRegressionData
- loadRegionalMultivariateData
- loadRegionalFunctionalData
- loadTwasWeights
- loadRssData
- loadMultitaskRegionalData
- regionDataToIndInput
- regionDataToRssInput
- harmonizeTwas
- harmonizeGwas
- loadStudyLd
- univariateAnalysisPipeline
- rssAnalysisPipeline
- multivariateAnalysisPipeline
- susieRssPipeline
- twasPipeline
- twasMultivariateWeightsPipeline
- standardiseSumstatsColumns
- loadTsvRegion
- batchLoadTwasWeights
- loadMultitraitTensorqtlSumstat
- loadMultitraitRSumstat
# Implementation details with .Rd topics but no front-facing role.
- as.data.frame.GwasSumStats
- rescaleCovW0
- "getSumStats,GwasSumStats-method"
footer:
structure:
left: developed_by
right: built_with