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Paralogous annotation of disease-causing variants in Long QT syndrome genes
Discriminating between rare benign and pathogenic variation is a key challenge in clinical genetics, particularly as increasing numbers of non-synonymous SNPs are identified in resequencing studies. Here, we describe an approach for the functional annotation of non-synonymous variants that identifie...
Guardat en:
| Publicat a: | Hum Mutat |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4640174/ https://ncbi.nlm.nih.gov/pubmed/22581653 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22114 |
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