Work

Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants

Year: 2021

Type: preprint

Abstract: Structural variants (SVs) are associated with cancer progression and Mendelian disorders, but challenges with estimating SV frequency remain a barrier to somatic and de novo classification. In particular, variability in filtering and variant calling heuristics limit our ability to use SV catalogs from large cohorts. We present a method to index and search the raw alignments from thousands of samples that overcomes these limitations and supports robust SV analysis.

Source: bioRxiv (Cold Spring Harbor Laboratory)

DOI: 10.1101/2021.04.21.440844

Authors: Ryan M. Layer, Fritz J. Sedlazeck, Brent S. Pedersen, Aaron R. Quinlan

Institutions: University of Colorado Boulder, Baylor College of Medicine, University of Utah

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4234301733

Cites: 23

Cited by: 2

Related to: 10