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From genes to genomes in the clinic
Next-generation sequencing is revolutionizing medical genetics and in the near future will pervade all medical fields. To maximize the potential clinical utility of this approach, global data sharing and phenotyping are needed, and the role of the geneticist in the interpretation of variation is vit...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517556/ https://www.ncbi.nlm.nih.gov/pubmed/26221187 http://dx.doi.org/10.1186/s13073-015-0200-0 |
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author | Veltman, Joris A. Lupski, James R. |
author_facet | Veltman, Joris A. Lupski, James R. |
author_sort | Veltman, Joris A. |
collection | PubMed |
description | Next-generation sequencing is revolutionizing medical genetics and in the near future will pervade all medical fields. To maximize the potential clinical utility of this approach, global data sharing and phenotyping are needed, and the role of the geneticist in the interpretation of variation is vital. |
format | Online Article Text |
id | pubmed-4517556 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-45175562015-07-29 From genes to genomes in the clinic Veltman, Joris A. Lupski, James R. Genome Med Editorial Next-generation sequencing is revolutionizing medical genetics and in the near future will pervade all medical fields. To maximize the potential clinical utility of this approach, global data sharing and phenotyping are needed, and the role of the geneticist in the interpretation of variation is vital. BioMed Central 2015-07-29 /pmc/articles/PMC4517556/ /pubmed/26221187 http://dx.doi.org/10.1186/s13073-015-0200-0 Text en © Veltman et al. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Editorial Veltman, Joris A. Lupski, James R. From genes to genomes in the clinic |
title | From genes to genomes in the clinic |
title_full | From genes to genomes in the clinic |
title_fullStr | From genes to genomes in the clinic |
title_full_unstemmed | From genes to genomes in the clinic |
title_short | From genes to genomes in the clinic |
title_sort | from genes to genomes in the clinic |
topic | Editorial |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517556/ https://www.ncbi.nlm.nih.gov/pubmed/26221187 http://dx.doi.org/10.1186/s13073-015-0200-0 |
work_keys_str_mv | AT veltmanjorisa fromgenestogenomesintheclinic AT lupskijamesr fromgenestogenomesintheclinic |