Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes-Reference-Cited by-同舟云学术

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Published:2019-04-12 Issue:9 Volume:27 Page:1398-1405
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Schmitz-Abe Klaus,Li Qifei,Rosen Samantha M.,Nori Neeharika,Madden Jill A.,Genetti Casie A.,Wojcik Monica H.,Ponnaluri Sadhana,Gubbels Cynthia S.,Picker Jonathan D.,O’Donnell-Luria Anne H.,Yu Timothy W.^ORCID,Bodamer Olaf,Brownstein Catherine A.,Beggs Alan H.^ORCID,Agrawal Pankaj B.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0401-x.pdf

Reference36 articles.

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2. Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18:1090–6.

3. Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med. 2015;17:444–51.

4. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011;12:745–55.

5. Wenger AM, Guturu H, Bernstein JA, Bejerano G. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genet Med. 2017;19:209–14.

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