A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease-Reference-Cited by-同舟云学术

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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Published:2016-09 Issue:3 Volume:99 Page:595-606
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Smedley Damian,Schubach Max,Jacobsen Julius O.B.,Köhler Sebastian,Zemojtel Tomasz,Spielmann Malte,Jäger Marten,Hochheiser Harry,Washington Nicole L.,McMurry Julie A.,Haendel Melissa A.,Mungall Christopher J.,Lewis Suzanna E.,Groza Tudor,Valentini Giorgio,Robinson Peter N.

Funder

European Union Seventh Framework Programme

NIH

NIH Office of the Director

Director, Office of Science, Office of Basic Energy Sciences, of the U.S. Department of Energy

Bundesministerium für Bildung und Forschung

Deutsche Forschungsgemeinschaft

DAAD Funding programme Research Stays for University Academics and Scientists

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference75 articles.

1. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome;Zemojtel;Sci. Transl. Med.,2014

2. Clinical exome sequencing for genetic identification of rare Mendelian disorders;Lee;JAMA,2014

3. Genome sequencing identifies major causes of severe intellectual disability;Gilissen;Nature,2014

4. Beyond GWASs: illuminating the dark road from association to function;Edwards;Am. J. Hum. Genet.,2013

5. ClinVar: public archive of relationships among sequence variation and human phenotype;Landrum;Nucleic Acids Res.,2014

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