Article

Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants

2021-05-10

Abstract excerpt

<title>Abstract</title> <p>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 thousan...

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Literature Corpus work: fb97e2cc-464b-54f5-af94-bc101b3f8b4f
DOI: 10.21203/rs.3.rs-456227/v1

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