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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and s...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254704/ https://www.ncbi.nlm.nih.gov/pubmed/32460895 http://dx.doi.org/10.1186/s13073-020-00748-z |
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| author | Marshall, Christian R. Bick, David Belmont, John W. Taylor, Stacie L. Ashley, Euan Dimmock, David Jobanputra, Vaidehi Kearney, Hutton M. Kulkarni, Shashikant Rehm, Heidi |
| author_facet | Marshall, Christian R. Bick, David Belmont, John W. Taylor, Stacie L. Ashley, Euan Dimmock, David Jobanputra, Vaidehi Kearney, Hutton M. Kulkarni, Shashikant Rehm, Heidi |
| author_sort | Marshall, Christian R. |
| collection | PubMed |
| description | Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS. |
| format | Online Article Text |
| id | pubmed-7254704 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-72547042020-06-07 The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic Marshall, Christian R. Bick, David Belmont, John W. Taylor, Stacie L. Ashley, Euan Dimmock, David Jobanputra, Vaidehi Kearney, Hutton M. Kulkarni, Shashikant Rehm, Heidi Genome Med Comment Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS. BioMed Central 2020-05-27 /pmc/articles/PMC7254704/ /pubmed/32460895 http://dx.doi.org/10.1186/s13073-020-00748-z Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. 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 in a credit line to the data. |
| spellingShingle | Comment Marshall, Christian R. Bick, David Belmont, John W. Taylor, Stacie L. Ashley, Euan Dimmock, David Jobanputra, Vaidehi Kearney, Hutton M. Kulkarni, Shashikant Rehm, Heidi The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic |
| title | The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic |
| title_full | The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic |
| title_fullStr | The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic |
| title_full_unstemmed | The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic |
| title_short | The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic |
| title_sort | medical genome initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic |
| topic | Comment |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254704/ https://www.ncbi.nlm.nih.gov/pubmed/32460895 http://dx.doi.org/10.1186/s13073-020-00748-z |
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