Assessing the digenic model in rare disorders using population sequencing data

An important fraction of patients with rare disorders remains with no clear genetic diagnostic, even after whole-exome or whole-genome sequencing, posing a difficulty in giving adequate treatment and genetic counseling. The analysis of genomic data in rare disorders mostly considers the presence of...

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Detalles Bibliográficos
Autores principales: Moreno-Ruiz, Nerea, Lao, Oscar, Aróstegui, Juan Ignacio, Laayouni, Hafid, Casals, Ferran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712436/
https://www.ncbi.nlm.nih.gov/pubmed/36192439
http://dx.doi.org/10.1038/s41431-022-01191-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712436/
https://www.ncbi.nlm.nih.gov/pubmed/36192439
http://dx.doi.org/10.1038/s41431-022-01191-x

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