Evaluation of copy number variant detection from panel-based next-generation sequencing data-Reference-Cited by-同舟云学术

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Evaluation of copy number variant detection from panel-based next-generation sequencing data

Published:2018-11-22 Issue:1 Volume:7 Page:e00513
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yao Ruen¹²^ORCID,Yu Tingting¹²,Qing Yanrong¹²,Wang Jian¹²,Shen Yiping³

Affiliation:

1. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center; Shanghai Jiao Tong University School of Medicine; Shanghai China

2. Institute for Pediatric Translational Medicine, Shanghai Children’s Medical Center; Shanghai Jiaotong University School of Medicine; Shanghai China

3. Division of Genetics and Genomics; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts

Funder

Science and Technology Commission of Shanghai Municipality

Shanghai Municipal Education Commission-Gaofeng Clinical Medicine

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.513/fullpdf

Reference20 articles.

1. DNA sequencing versus standard prenatal aneuploidy screening;Bianchi;New England Journal of Medicine,2014

2. Detection of clinically relevant copy number variants with whole-exome sequencing;Ligt;Human Mutation,2013

3. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia;Fogel;JAMA Neurology,2014

4. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth;Fromer;American Journal of Human Genetics,2012

5. Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants;Kearney;Genetics in Medicine,2011

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