Abstract
AbstractStructural 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.
Publisher
Cold Spring Harbor Laboratory
Cited by
3 articles.
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