The time for next-generation molecular genetic diagnostics in nephrology is now!

Peter C. Harris

doi:10.1016/j.kint.2018.03.025

The time for next-generation molecular genetic diagnostics in nephrology is now!

Peter C. Harris

Nephrology and Hypertension

Research output: Contribution to journal › Comment/debate › peer-review

3 Scopus citations

Abstract

Global and disease-group genetic testing is replacing single-gene molecular diagnostics. Bullich et al. demonstrate that gene panel analysis can result in a high yield of genetic diagnoses in cystic and familial glomerular populations. As the complexity of defining specific inherited kidney diseases becomes more apparent, a broader role for panel-based genomic testing in nephrology is now warranted. The resulting firm diagnosis can inform family planning decisions and aid prognostics and patient management.

Original language	English (US)
Pages (from-to)	237-239
Number of pages	3
Journal	Kidney international
Volume	94
Issue number	2
DOIs	https://doi.org/10.1016/j.kint.2018.03.025
State	Published - Aug 2018

ASJC Scopus subject areas

Nephrology

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10.1016/j.kint.2018.03.025

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title = "The time for next-generation molecular genetic diagnostics in nephrology is now!",

abstract = "Global and disease-group genetic testing is replacing single-gene molecular diagnostics. Bullich et al. demonstrate that gene panel analysis can result in a high yield of genetic diagnoses in cystic and familial glomerular populations. As the complexity of defining specific inherited kidney diseases becomes more apparent, a broader role for panel-based genomic testing in nephrology is now warranted. The resulting firm diagnosis can inform family planning decisions and aid prognostics and patient management.",

author = "Harris, {Peter C.}",

note = "Publisher Copyright: {\textcopyright} 2018 International Society of Nephrology",

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AB - Global and disease-group genetic testing is replacing single-gene molecular diagnostics. Bullich et al. demonstrate that gene panel analysis can result in a high yield of genetic diagnoses in cystic and familial glomerular populations. As the complexity of defining specific inherited kidney diseases becomes more apparent, a broader role for panel-based genomic testing in nephrology is now warranted. The resulting firm diagnosis can inform family planning decisions and aid prognostics and patient management.

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The time for next-generation molecular genetic diagnostics in nephrology is now!

Abstract

ASJC Scopus subject areas

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