Cargando…
Genomewide significance testing of variation from single case exomes
Standard techniques from genetic epidemiology are ill-suited to formally assess the significance of variants identified from a single case. We developed a statistical inference framework for identifying unusual functional variation from a single genome, what we refer to as the “n-of-one” problem. Us...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2016
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127779/ https://www.ncbi.nlm.nih.gov/pubmed/27776118 http://dx.doi.org/10.1038/ng.3697 |