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Taming the genome: towards better genetic test interpretation
Advances in sequencing technology have taught us much about the human genome, including how difficult it is to interpret rare variation. Improvements in genetic test interpretation are likely to come through data sharing, international collaborative efforts to develop disease–gene specific guideline...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915179/ https://www.ncbi.nlm.nih.gov/pubmed/27324065 http://dx.doi.org/10.1186/s13073-016-0325-9 |
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author | Caleshu, Colleen Ashley, Euan A. |
author_facet | Caleshu, Colleen Ashley, Euan A. |
author_sort | Caleshu, Colleen |
collection | PubMed |
description | Advances in sequencing technology have taught us much about the human genome, including how difficult it is to interpret rare variation. Improvements in genetic test interpretation are likely to come through data sharing, international collaborative efforts to develop disease–gene specific guidelines, and computational analyses using big data. |
format | Online Article Text |
id | pubmed-4915179 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-49151792016-06-22 Taming the genome: towards better genetic test interpretation Caleshu, Colleen Ashley, Euan A. Genome Med Comment Advances in sequencing technology have taught us much about the human genome, including how difficult it is to interpret rare variation. Improvements in genetic test interpretation are likely to come through data sharing, international collaborative efforts to develop disease–gene specific guidelines, and computational analyses using big data. BioMed Central 2016-06-20 /pmc/articles/PMC4915179/ /pubmed/27324065 http://dx.doi.org/10.1186/s13073-016-0325-9 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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 | Comment Caleshu, Colleen Ashley, Euan A. Taming the genome: towards better genetic test interpretation |
title | Taming the genome: towards better genetic test interpretation |
title_full | Taming the genome: towards better genetic test interpretation |
title_fullStr | Taming the genome: towards better genetic test interpretation |
title_full_unstemmed | Taming the genome: towards better genetic test interpretation |
title_short | Taming the genome: towards better genetic test interpretation |
title_sort | taming the genome: towards better genetic test interpretation |
topic | Comment |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915179/ https://www.ncbi.nlm.nih.gov/pubmed/27324065 http://dx.doi.org/10.1186/s13073-016-0325-9 |
work_keys_str_mv | AT caleshucolleen tamingthegenometowardsbettergenetictestinterpretation AT ashleyeuana tamingthegenometowardsbettergenetictestinterpretation |