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Human disease genomics: from variants to biology
We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease.
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278570/ https://www.ncbi.nlm.nih.gov/pubmed/28137298 http://dx.doi.org/10.1186/s13059-017-1160-z |
| _version_ | 1782502664312979456 |
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| author | McCarthy, Mark I. MacArthur, Daniel G. |
| author_facet | McCarthy, Mark I. MacArthur, Daniel G. |
| author_sort | McCarthy, Mark I. |
| collection | PubMed |
| description | We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease. |
| format | Online Article Text |
| id | pubmed-5278570 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-52785702017-02-03 Human disease genomics: from variants to biology McCarthy, Mark I. MacArthur, Daniel G. Genome Biol Editorial We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease. BioMed Central 2017-01-30 /pmc/articles/PMC5278570/ /pubmed/28137298 http://dx.doi.org/10.1186/s13059-017-1160-z Text en © The Author(s). 2017 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 | Editorial McCarthy, Mark I. MacArthur, Daniel G. Human disease genomics: from variants to biology |
| title | Human disease genomics: from variants to biology |
| title_full | Human disease genomics: from variants to biology |
| title_fullStr | Human disease genomics: from variants to biology |
| title_full_unstemmed | Human disease genomics: from variants to biology |
| title_short | Human disease genomics: from variants to biology |
| title_sort | human disease genomics: from variants to biology |
| topic | Editorial |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278570/ https://www.ncbi.nlm.nih.gov/pubmed/28137298 http://dx.doi.org/10.1186/s13059-017-1160-z |
| work_keys_str_mv | AT mccarthymarki humandiseasegenomicsfromvariantstobiology AT macarthurdanielg humandiseasegenomicsfromvariantstobiology |