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...

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Detalles Bibliográficos
Autores principales: Caleshu, Colleen, Ashley, Euan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Comment
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.
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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
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