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VARPRISM: incorporating variant prioritization in tests of de novo mutation association
BACKGROUND: Patients with certain genetic diseases, such as autism spectrum disorder, have increased rates of de novo mutations within some protein-coding genes. RESULTS: We introduce the VARiant PRIoritization SuM (VARPRISM), a software package which incorporates functional variant prioritization i...
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| Izdano u: | Genome Med |
|---|---|
| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2016
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4997702/ https://ncbi.nlm.nih.gov/pubmed/27562213 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0341-9 |
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