Cargando…
Computational assessment of feature combinations for pathogenic variant prediction
BACKGROUND: Although several methods have been proposed for predicting the effects of genetic variants and their role in disease, it is still a challenge to identify and prioritize pathogenic variants within sequencing studies. METHODS: Here, we compare different variant and gene‐specific features a...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2016
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947862/ https://www.ncbi.nlm.nih.gov/pubmed/27468419 http://dx.doi.org/10.1002/mgg3.214 |