Article

Detecting Somatic Mutations Without Matched Normal Samples Using Long Reads

2024-02-29

Abstract excerpt

DNA sequencing of tumours to identify somatic mutations has become a critical tool to guide the type of treatment given to cancer patients. The gold standard for mutation calling is comparing sequencing data from the tumour to a matched normal sample to avoid mis-classifying inherited SNPs as mutations. This procedure works extremely well, but in certain situations only a tumour sample is available. While approach...

Topics

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

Identifiers and source

Literature Corpus work: 1ba1a594-a27f-5e77-8218-bf79323093c2
DOI: 10.1101/2024.02.26.582089

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Detecting Somatic Mutations Without Matched Normal Samples Using Long ReadsDOI 10.1101/2024.02.26.582089Read

Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractionsSemantic proximity Read

Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs.Semantic proximity Read

Linked-read analysis identifies mutations in single cell DNA sequencing dataSemantic proximity Read

Detecting Somatic Mutations in Normal Cells.Semantic proximity Read

Ultra-fast local-haplotype variant calling using paired-end DNA-sequencing data reveals somatic mosaicism in tumor and normal blood samples.Semantic proximity Read

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read dataSemantic proximity Read

Discriminating somatic and germline mutations in tumor DNA samples without matching normals.Semantic proximity Read

Improving Accuracy of Somatic Mutation Profiling in Large Epidemiologic Studies: Addressing Cases without Matched Normal SamplesSemantic proximity Read

Evaluating somatic tumor mutation detection without matched normal samples.Semantic proximity Read

Detection of somatic structural variants from short-read next-generation sequencing dataSemantic proximity Read

Detection of somatic structural variants from short-read next-generation sequencing data.Semantic proximity Read

Accurate Reference-Free Somatic Variant-Calling by Integrating Genomic, Sequencing and Population DataSemantic proximity Read