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Global genetic carrier testing: a vision for the future
Expanded genetic carrier testing is changing clinical practice. Current experience highlights the need for rigorous curation of tens of thousands of variants as to their pathogenicity and phenotypic effects. There is an urgent need for strategies to present a range of options to families to enable t...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517364/ https://www.ncbi.nlm.nih.gov/pubmed/26221188 http://dx.doi.org/10.1186/s13073-015-0204-9 |
| _version_ | 1782383175802028032 |
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| author | Beaudet, Arthur L. |
| author_facet | Beaudet, Arthur L. |
| author_sort | Beaudet, Arthur L. |
| collection | PubMed |
| description | Expanded genetic carrier testing is changing clinical practice. Current experience highlights the need for rigorous curation of tens of thousands of variants as to their pathogenicity and phenotypic effects. There is an urgent need for strategies to present a range of options to families to enable them to make informed decisions. The potential exists to avoid the great majority of serious inherited, but not de novo, single-gene disabilities. |
| format | Online Article Text |
| id | pubmed-4517364 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-45173642015-07-29 Global genetic carrier testing: a vision for the future Beaudet, Arthur L. Genome Med Comment Expanded genetic carrier testing is changing clinical practice. Current experience highlights the need for rigorous curation of tens of thousands of variants as to their pathogenicity and phenotypic effects. There is an urgent need for strategies to present a range of options to families to enable them to make informed decisions. The potential exists to avoid the great majority of serious inherited, but not de novo, single-gene disabilities. BioMed Central 2015-07-29 /pmc/articles/PMC4517364/ /pubmed/26221188 http://dx.doi.org/10.1186/s13073-015-0204-9 Text en © Beaudet. 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 | Comment Beaudet, Arthur L. Global genetic carrier testing: a vision for the future |
| title | Global genetic carrier testing: a vision for the future |
| title_full | Global genetic carrier testing: a vision for the future |
| title_fullStr | Global genetic carrier testing: a vision for the future |
| title_full_unstemmed | Global genetic carrier testing: a vision for the future |
| title_short | Global genetic carrier testing: a vision for the future |
| title_sort | global genetic carrier testing: a vision for the future |
| topic | Comment |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517364/ https://www.ncbi.nlm.nih.gov/pubmed/26221188 http://dx.doi.org/10.1186/s13073-015-0204-9 |
| work_keys_str_mv | AT beaudetarthurl globalgeneticcarriertestingavisionforthefuture |