Article

Genotyping of Inversions and Tandem Duplications

2016-06-01

Abstract excerpt

<h4>Motivation</h4> Next Generation Sequencing (NGS) has enabled studying structural genomic variants (SVs) such as duplications and inversions in large cohorts. SVs have been shown to play important roles in multiple diseases, including cancer. As costs for NGS continue to decline and variant databases become ever more complete, the relevance of genotyping also SVs from NGS data increases steadily, which is in s...

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Literature Corpus work: 8e661e7b-24cf-58ac-8d69-dbc21712deb1
DOI: 10.1101/056432

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