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PUBLICATIONS

CrowdVariant: a crowdsourcing approach to curate copy number variants

Published

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
24
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

Citation

Zook, J. , Salit, M. , Greenside, P. , Poplin, R. , DePristo, M. and Cule, M. (2019), CrowdVariant: a crowdsourcing approach to curate copy number variants, Pacific Symposium for Biocomputing, [online], https://tsapps.nist.gov/publication/get_pdf.cfm?pub_id=922436 (Accessed October 17, 2025)

Issues

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Created January 6, 2019, Updated January 27, 2020
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