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Inter‐lab concordance of variant classifications establishes clinical validity of expanded carrier screening
Expanded carrier screening (ECS) panels that use next‐generation sequencing aim to identify pathogenic variants in coding and clinically relevant non‐coding regions of hundreds of genes, each associated with a serious recessive condition. ECS has established analytical validity and clinical utility,...
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| Publicado no: | Clin Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Blackwell Publishing Ltd
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6852020/ https://ncbi.nlm.nih.gov/pubmed/31170325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13582 |
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