Article

Functional clustering of splice-altering variants in whole genome sequencing data reveals hidden heritability in rare variant disorder

2023-05-31

Abstract excerpt

Explaining missing heritability in rare disorders requires effective methods to interpret genetic variants. Sequence-to-function models such as SpliceAI support discovery of splice altering variants but filtering their output to identify pathogenic mutations remains challenging. We developed SpliPath to address 2 unmet needs in this process. First, SpliPath links the output of SpliceAI with reference transcriptomi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5e3ce3f9-273b-55b9-b4c0-4cf3a755d7cb
DOI: 10.1101/2023.05.30.542855

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functional clustering of splice-altering variants in whole genome sequencing data reveals hidden heritability in rare variant disorderDOI 10.1101/2023.05.30.542855Read

Spliformer-V2 enables multi-tissue prediction and interpretation of splice-altering genetic variantsSemantic proximity Read

Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosisSemantic proximity Read

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variantsSemantic proximity Read

CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites.Semantic proximity Read

CrosSplice: A Pipeline for Identifying Rare Splice-Site Creating Variants from Cross-Tissue Transcriptome DataSemantic proximity Read

Integrated detection and quantification of aberrant transcripts with novel splicing eventsSemantic proximity Read

Pathogenic variants that alter protein code often disrupt splicing.Semantic proximity Read

The impact of genetically controlled splicing on exon inclusion and protein structure.Semantic proximity Read

Benchmarking splice variant prediction algorithms using massively parallel splicing assays.Semantic proximity Read

Benchmarking splice variant prediction algorithms using massively parallel splicing assaysSemantic proximity Read

Massively parallel assay of human splice variants reveals cis-regulatory drivers of disease-associated and cell type-specific splicing regulationSemantic proximity Read

Splicing-specific transcriptome-wide association uncovers genetic mechanisms for schizophrenia.Semantic proximity Read