Article

Structural variation across 138,134 samples in the TOPMed consortium

2023-01-26

Abstract excerpt

Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial and requires a balance between comprehensiveness and precision. Here we present a catalog of 355,667 SVs (59.34% novel) across autosomes and the X chromosome (50bp+) from 138,134 i...

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Literature Corpus work: 68a8923b-c737-57fc-be33-a059403e67be
DOI: 10.1101/2023.01.25.525428

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