Article

Long-range somatic structural variation calling from matched tumor-normal co-assembly graphs

2024-07-30

Abstract excerpt

The accurate identification of somatic structural variants (SVs) is a problem with significant applications to clinical cancer research. Though technologies such as long-read sequencing have facilitated the development of more accurate SV calling methods, existing somatic SV callers still struggle with achieving high precision. In this work, we present colorSV, a long-read-based method for calling long-range SVs b...

Topics

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

Identifiers and source

Literature Corpus work: ec9e44a7-0cf0-5719-b84d-d1320b76a9a4
DOI: 10.1101/2024.07.29.605160

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long-range somatic structural variation calling from matched tumor-normal co-assembly graphsDOI 10.1101/2024.07.29.605160Read

Lancet2: Improved and accelerated somatic variant calling with joint multi-sample local assembly graphs.Semantic proximity Read

Lancet2: Improved and accelerated somatic variant calling with joint multi-sample local assembly graphsSemantic proximity Read

Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsSemantic proximity Read

Precise characterization of somatic complex structural variations from paired long-read sequencing data with nanomonsvSemantic proximity Read

Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long readsSemantic proximity Read

VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencing.Semantic proximity Read

SvABA: Genome-wide detection of structural variants and indels by local assemblySemantic proximity Read

GASOLINE: detecting germline and somatic structural variants from long-reads dataSemantic proximity Read

VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencingSemantic proximity Read

Precise characterization of somatic complex structural variations from tumor/control paired long-read sequencing data with nanomonsv.Semantic proximity Read

Diploid donor-specific assembly enhances somatic structural variant detection in cancer genomesSemantic proximity Read

The benefit of a complete reference genome for cancer structural variant analysisSemantic proximity Read