Article

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

2018-12-31

Abstract excerpt

<h4>ABSTRACT</h4> A key goal of whole genome sequencing (WGS) for human genetics studies is to interrogate all forms of variation, including single nucleotide variants (SNV), small insertion/deletion (indel) variants and structural variants (SV). However, tools and resources for the study of SV have lagged behind those for smaller variants. Here, we used a cloud-based pipeline to map and characterize SV in 17,795...

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Literature Corpus work: a75a8a90-e954-5fb2-9294-9f4bd7e7fbca
DOI: 10.1101/508515

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