Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2016
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4997702/ https://www.ncbi.nlm.nih.gov/pubmed/27562213 http://dx.doi.org/10.1186/s13073-016-0341-9 |