Cargando…
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants
Whole-genome sequencing resolves many clinical cases where standard diagnostic methods have failed. However, at least half of these cases remain unresolved after whole-genome sequencing. Structural variants (SVs; genomic variants larger than 50 base pairs) of uncertain significance are the genetic c...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874149/ https://www.ncbi.nlm.nih.gov/pubmed/35032432 http://dx.doi.org/10.1016/j.ajhg.2021.12.007 |