Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing-Reference-Cited by-同舟云学术

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Published:2019-06-23 Issue:10 Volume:27 Page:1519-1531
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bruel Ange-Line, ,Nambot Sophie,Quéré Virginie,Vitobello Antonio,Thevenon Julien^ORCID,Assoum Mirna,Moutton Sébastien,Houcinat Nada,Lehalle Daphné,Jean-Marçais Nolwenn,Chevarin Martin^ORCID,Jouan Thibaud,Poë Charlotte,Callier Patrick,Tisserand Emilie,Philippe Christophe,Them Frédéric Tran Mau,Duffourd Yannis,Faivre Laurence,Thauvin-Robinet Christel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0442-1.pdf

Reference54 articles.

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2. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, et al. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders. JAMA. 2014;312:1880–7.

3. Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385:1305–14.

4. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369:1502–11.

5. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312:1870–9.

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