Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach-Reference-Cited by-同舟云学术

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

Published:2016-08-18 Issue:1 Volume:3 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Yamamoto Toshiyuki^ORCID,Shimojima Keiko,Ondo Yumiko,Imai Katsumi,Chong Pin Fee,Kira Ryutaro,Amemiya Mitsuhiro,Saito Akira,Okamoto Nobuhiko

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201625.pdf

Reference21 articles.

1. Yamamoto T, Shimojima K, Shimada S, Yokochi K, Yoshitomi S, Yanagihara K et al. Clinical impacts of genomic copy number gains at Xq28. Hum Genome Var 2014; 1: 14001.

2. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP 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 2010; 86: 749–764.

3. Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S et al. Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. PLoS ONE 2015; 10: e0118946.

4. Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet 2012; 91: 597–607.

5. de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J et al. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat 2013; 34: 1439–1448.

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