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...

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Detalles Bibliográficos
Autores principales: Steinhaus, Robin, Boschann, Felix, Vogel, Melanie, Fischer-Zirnsak, Björn, Seelow, Dominik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Web Server Issue
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

Internet

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

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