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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2018
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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. |
format | Online Article Text |
id | pubmed-6318767 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Cold Spring Harbor Laboratory Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT fresardlaure diagnosingrarediseasesaftertheexome AT montgomerystephenb diagnosingrarediseasesaftertheexome |