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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 |
| Sumario: | 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. |
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