Clinical sequencing: is WGS the better WES?-Reference-Cited by-同舟云学术

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Clinical sequencing: is WGS the better WES?

Published:2016-01-07 Issue:3 Volume:135 Page:359-362
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Meienberg Janine,Bruggmann Rémy,Oexle Konrad,Matyas Gabor

Funder

Bangerter-Rhyner-Stiftung

COFRA Foundation

Ebnet-Stiftung

Gebauer Stiftung

Hirzel-Callegari Stiftung

Spendenstiftung Bank Vontobel

Stiftung FERNE HORIZONTE

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-015-1631-9.pdf

Reference15 articles.

1. Belkadi A, Bolze A, Itan Y et al (2015) Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. Proc Natl Acad Sci USA 112:5473–5478

2. Derrien T, Estelle J, Marco Sola S et al (2012) Fast computation and applications of genome mappability. PLoS One 7:e30377

3. Escaramis G, Docampo E, Rabionet R (2015) A decade of structural variants: description, history and methods to detect structural variation. Brief Funct Genomics 14:305–314

4. Gilissen C, Hehir-Kwa JY, Thung DT et al (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344–347

5. Girirajan S, Brkanac Z, Coe BP et al (2011) Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 7:e1002334

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