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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...
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| Vydáno v: | Hum Mutat |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2012
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| Témata: | |
| On-line přístup: | 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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