RT Journal Article
SR Electronic
T1 Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2021.04.21.440844
DO 10.1101/2021.04.21.440844
A1 Ryan M. Layer
A1 Fritz J. Sedlazeck
A1 Brent S. Pedersen
A1 Aaron R. Quinlan
YR 2021
UL http://biorxiv.org/content/early/2021/04/22/2021.04.21.440844.abstract
AB 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.Competing Interest StatementThe authors have declared no competing interest.