Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation | Zendy

Jennifer E. Posey | Zendy; Tamar Harel | Zendy; Pengfei Liu | Zendy; Jill A. Rosenfeld | Zendy; Regis A. James | Zendy; Zeynep H. Coban Akdemir | Zendy; Magdalena Walkiewicz | Zendy; Weimin Bi | Zendy; Rui Xiao | Zendy; Yan Ding | Zendy; Fan Xia | Zendy; Arthur L. Beaudet | Zendy; Donna M. Muzny | Zendy; Richard A. Gibbs | Zendy; Eric Boerwinkle | Zendy; Christine M. Eng | Zendy; V. Reid Sutton | Zendy; Chad A. Shaw | Zendy; Sharon E. Plon | Zendy; Yaping Yang | Zendy; James R. Lupski | Zendy

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Author(s) -

Jennifer E. Posey,

Tamar Harel,

Pengfei Liu,

Jill A. Rosenfeld,

Regis A. James,

Zeynep H. Coban Akdemir,

Magdalena Walkiewicz,

Weimin Bi,

Rui Xiao,

Yan Ding,

Fan Xia,

Arthur L. Beaudet,

Donna M. Muzny,

Richard A. Gibbs,

Eric Boerwinkle,

Christine M. Eng,

V. Reid Sutton,

Chad A. Shaw,

Sharon E. Plon,

Yaping Yang,

James R. Lupski

Publication year - 2016

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1516767

Subject(s) - exome sequencing , phenotype , medicine , exome , disease , genotype phenotype distinction , medical diagnosis , mendelian inheritance , medical genetics , genotype , clinical phenotype , genetics , bioinformatics , gene , biology , pathology

Whole-exome sequencing can provide insight into the relationship between observed clinical phenotypes and underlying genotypes.

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