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Diagnosing rare diseases after the exome

High-throughput sequencing has ushered in a diversity of approaches for identifying genetic variants and understanding genome structure and function. When applied to individuals with rare genetic diseases, these approaches have greatly accelerated gene discovery and patient diagnosis. Over the past...

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Detalles Bibliográficos
Autores principales: Frésard, Laure, Montgomery, Stephen B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318767/
https://www.ncbi.nlm.nih.gov/pubmed/30559314
http://dx.doi.org/10.1101/mcs.a003392
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author Frésard, Laure
Montgomery, Stephen B.
author_facet Frésard, Laure
Montgomery, Stephen B.
author_sort Frésard, Laure
collection PubMed
description High-throughput sequencing has ushered in a diversity of approaches for identifying genetic variants and understanding genome structure and function. When applied to individuals with rare genetic diseases, these approaches have greatly accelerated gene discovery and patient diagnosis. Over the past decade, exome sequencing has emerged as a comprehensive and cost-effective approach to identify pathogenic variants in the protein-coding regions of the genome. However, for individuals in whom exome-sequencing fails to identify a pathogenic variant, we discuss recent advances that are helping to reduce the diagnostic gap.
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spelling pubmed-63187672019-01-13 Diagnosing rare diseases after the exome Frésard, Laure Montgomery, Stephen B. Cold Spring Harb Mol Case Stud Mini-Review High-throughput sequencing has ushered in a diversity of approaches for identifying genetic variants and understanding genome structure and function. When applied to individuals with rare genetic diseases, these approaches have greatly accelerated gene discovery and patient diagnosis. Over the past decade, exome sequencing has emerged as a comprehensive and cost-effective approach to identify pathogenic variants in the protein-coding regions of the genome. However, for individuals in whom exome-sequencing fails to identify a pathogenic variant, we discuss recent advances that are helping to reduce the diagnostic gap. Cold Spring Harbor Laboratory Press 2018-12 /pmc/articles/PMC6318767/ /pubmed/30559314 http://dx.doi.org/10.1101/mcs.a003392 Text en © 2018 Frésard and Montgomery; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted reuse and redistribution provided that the original author and source are credited.
spellingShingle Mini-Review
Frésard, Laure
Montgomery, Stephen B.
Diagnosing rare diseases after the exome
title Diagnosing rare diseases after the exome
title_full Diagnosing rare diseases after the exome
title_fullStr Diagnosing rare diseases after the exome
title_full_unstemmed Diagnosing rare diseases after the exome
title_short Diagnosing rare diseases after the exome
title_sort diagnosing rare diseases after the exome
topic Mini-Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318767/
https://www.ncbi.nlm.nih.gov/pubmed/30559314
http://dx.doi.org/10.1101/mcs.a003392
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