Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing-Reference-Cited by-同舟云学术

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

Published:2016-11-02 Issue:1 Volume:37 Page:42-50
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Engelhardt Karin R.,Xu Yaobo,Grainger Angela,Germani Batacchi Mila G. C.,Swan David J.,Willet Joseph D. P.,Abd Hamid Intan J.,Agyeman Philipp,Barge Dawn,Bibi Shahnaz,Jenkins Lucy,Flood Terence J.,Abinun Mario,Slatter Mary A.,Gennery Andrew R.,Cant Andrew J.,Santibanez Koref Mauro,Gilmour Kimberly,Hambleton Sophie

Funder

Sir Jules Thorn Charitable Trust

Bubble Foundation

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-016-0343-9.pdf

Reference27 articles.

1. Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics. 2012;28(21):2747-54. Pubmed Central PMCID: 3476336.

2. Tan R, Wang Y, Kleinstein SE, Liu Y, Zhu X, Guo H, et al. An evaluation of copy number variation detection tools from whole-exome sequencing data. Hum Mutat. 2014;35(7):899–907.