Article

Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

2019-11-20

Abstract excerpt

Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source of genetic diversity. We generated LRS data on 3,622 Icelanders using Oxford Nanopore Technologies, and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions), spanning a median of 10 Mb per haploid genome. We discovered a set of 133,886 reliably genotyped SV al...

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Literature Corpus work: 912b1ed5-d7c6-5a29-8cc6-bad5a1acb315
DOI: 10.1101/848366

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