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Diagnostic Utility of Exome Sequencing for Kidney Disease
Author(s) -
Emily Groopman,
Maddalena Marasà,
Sophia CameronChristie,
Slavé Petrovski,
Vimla S. Aggarwal,
Hila Milo Rasouly,
Yifu Li,
Junying Zhang,
Jordan G. Nestor,
Priya Krithivasan,
Wan Yee Lam,
Adele Mitrotti,
Stacy Piva,
Byum Hee Kil,
Debanjana Chatterjee,
Rachel Reingold,
Drew Bradbury,
Michael DiVecchia,
Holly Snyder,
Xueru Mu,
Karla Mehl,
Olivia Balderes,
David Fasel,
Chunhua Weng,
Jai Radhakrishnan,
Pietro A. Canetta,
Gerald B. Appel,
Andrew S. Bomback,
Wooin Ahn,
Natalie Uy,
Shumyle Alam,
David Cohen,
Russell J. Crew,
Geoffrey K. Dube,
Maya K. Rao,
Sitharthan Kamalakaran,
Brett Copeland,
Zhong Ren,
Joshua Bridgers,
Colin D. Malone,
Caroline M. Mebane,
Neha Dagaonkar,
Bengt Fellström,
Carolina Haefliger,
Sumit Mohan,
Simone SannaCherchi,
Krzysztof Kiryluk,
Jan Fleckner,
Ruth March,
Adam Platt,
David B. Goldstein,
Ali G. Gharavi
Publication year - 2018
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/nejmoa1806891
Subject(s) - exome sequencing , kidney disease , exome , disease , medicine , dna sequencing , computational biology , bioinformatics , pathology , biology , genetics , mutation , dna , gene
Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally.

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