Cargando…
AutozygosityMapper: Identification of disease-mutations in consanguineous families
With the shift from SNP arrays to high-throughput sequencing, most researchers studying diseases in consanguineous families do not rely on linkage analysis any longer, but simply search for deleterious variants which are homozygous in all patients. AutozygosityMapper allows the fast and convenient i...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252840/ https://www.ncbi.nlm.nih.gov/pubmed/35489060 http://dx.doi.org/10.1093/nar/gkac280 |