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Diagnostic Utility of Exome Sequencing for Kidney Disease

by Lam, Wan Yee , Appel, Gerald B , Mehl, Karla , Nestor, Jordan , Cameron-Christie, Sophia , Chatterjee, Debanjana , Ren, Zhong , DiVecchia, Michael , Bridgers, Joshua , Bomback, Andrew S , Dube, Geoffrey K , Piva, Stacy , Li, Yifu , Mitrotti, Adele , Snyder, Holly , Uy, Natalie S , Kil, Byum H , Bradbury, Drew , Krithivasan, Priya , Kamalakaran, Sitharthan , Weng, Chunhua , Cohen, David J , Fleckner, Jan , Alam, Shumyle , Balderes, Olivia , Mohan, Sumit , Petrovski, Slavé , Dagaonkar, Neha , Aggarwal, Vimla S , Malone, Colin D , Goldstein, David B , Sanna-Cherchi, Simone , Zhang, Junying , Mu, Xueru , Groopman, Emily E , Fasel, David A , Milo-Rasouly, Hila , Kiryluk, Krzysztof , Marasa, Maddalena , March, Ruth , Platt, Adam , Gharavi, Ali G , Ahn, Wooin , Canetta, Pietro , Crew, Russell J , Copeland, Brett , Radhakrishnan, Jai , Rao, Maya K , Haefliger, Carolina , Reingold, Rachel , Fellström, Bengt C , Mebane, Caroline M

in Adult / Adults / Aged / Clinical trials / Cohort Studies / Consent / Exome / Family medical history / Genetic disorders / Genetic Predisposition to Disease / Genetic screening / Genetic Variation / Genomes / Genomics / Humans / Kidney diseases / Kidneys / Male / Medical diagnosis / Medical prognosis / Middle Aged / Mutation / Nephrology / Nephropathy / Patients / Renal Insufficiency, Chronic - ethnology / Renal Insufficiency, Chronic - genetics / Sequence Analysis, DNA - methods / Young Adult

2019

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Diagnostic Utility of Exome Sequencing for Kidney Disease

2019

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2019

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Journal Article

Diagnostic Utility of Exome Sequencing for Kidney Disease

Lam, Wan Yee,

Appel, Gerald B,

Mehl, Karla,

Nestor, Jordan,

Cameron-Christie, Sophia,

Chatterjee, Debanjana,

Ren, Zhong,

DiVecchia, Michael,

Bridgers, Joshua,

Bomback, Andrew S,

Dube, Geoffrey K,

Piva, Stacy,

Li, Yifu,

Mitrotti, Adele,

Snyder, Holly,

Uy, Natalie S,

Kil, Byum H,

Bradbury, Drew,

Krithivasan, Priya,

Kamalakaran, Sitharthan,

Weng, Chunhua,

Cohen, David J,

Fleckner, Jan,

Alam, Shumyle,

Balderes, Olivia,

Mohan, Sumit,

Petrovski, Slavé,

Dagaonkar, Neha,

Aggarwal, Vimla S,

Malone, Colin D,

Goldstein, David B,

Sanna-Cherchi, Simone,

Zhang, Junying,

Mu, Xueru,

Groopman, Emily E,

Fasel, David A,

Milo-Rasouly, Hila,

Kiryluk, Krzysztof,

Marasa, Maddalena,

March, Ruth,

Platt, Adam,

Gharavi, Ali G,

Ahn, Wooin,

Canetta, Pietro,

Crew, Russell J,

Copeland, Brett,

Radhakrishnan, Jai,

Rao, Maya K,

Haefliger, Carolina,

Reingold, Rachel,

Fellström, Bengt C,

Mebane, Caroline M

2019

Overview

The utility of exome sequencing for most constitutional disorders in adults is unclear. In this study, exome sequencing in 3315 patients with chronic kidney disease yielded a genetic diagnosis in 307 cases (9.3%), with clinically important management implications for 89% of those reviewed.

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Publisher

Massachusetts Medical Society

Subject

Adult

/ Adults

/ Aged

/ Clinical trials

/ Cohort Studies

/ Consent

/ Exome