Article

Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants

2021-04-22

Abstract excerpt

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...

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Literature Corpus work: 04f07a29-56b8-5d7e-b364-a52da4ba995b
DOI: 10.1101/2021.04.21.440844

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