GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data-Reference-Cited by-同舟云学术

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

Published:2023-08-21 Issue:9 Volume:55 Page:1589-1597
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Babadi Mehrtash^ORCID,Fu Jack M.,Lee Samuel K.^ORCID,Smirnov Andrey N.^ORCID,Gauthier Laura D.,Walker Mark^ORCID,Benjamin David I.,Zhao Xuefang,Karczewski Konrad J.^ORCID,Wong Isaac^ORCID,Collins Ryan L.^ORCID,Sanchis-Juan Alba,Brand Harrison,Banks Eric,Talkowski Michael E.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

https://www.nature.com/articles/s41588-023-01449-0.pdf

Reference48 articles.

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3. Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, eabf7117 (2021).

4. Ruderfer, D. M. et al. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat. Genet. 48, 1107–1111 (2016).

5. Miller, D. T. et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86, 749–764 (2010).

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