CrowdVariant: a crowdsourcing approach to curate copy number variants

Justin M. Zook; Marc L. Salit; Peyton  Greenside; Ryan  Poplin; Mark  DePristo; Madeleine  Cule

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PUBLICATIONS

CrowdVariant: a crowdsourcing approach to curate copy number variants

Published

January 6, 2019

Author(s)

Justin M. Zook, Marc L. Salit, Peyton Greenside, Ryan Poplin, Mark DePristo, Madeleine Cule

Abstract

Copy number variants (CNVs) are an important type of genetic variation and play a causal role in many diseases. However, they are also notoriously difficult to identify accurately from next-generation sequencing (NGS) data. For larger CNVs, genotyping arrays provide reasonable benchmark data, but NGS allows us to assay a far larger number of small (

Citation

Pacific Symposium for Biocomputing

Volume

Pub Type

Journals

Download Paper

Local Download

Keywords

genomics, DNA sequencing, crowd sourcing, structural variants

Bioscience, Genomics, Health, Clinical diagnostics, Reference data and Reference materials

Created January 6, 2019, Updated January 27, 2020