Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

Clinical whole genome sequencing has enabled the discovery of potentially pathogenic noncoding variants in the genomes of rare disease patients with a prior history of negative genetic testing. However, interpreting the functional consequences of noncoding variants and distinguishing those that cont...

Descripción completa

Detalles Bibliográficos
Autores principales: McQuerry, Jasmine A., Mclaird, Merry, Hartin, Samantha N., Means, John C., Johnston, Jeffrey, Pastinen, Tomi, Younger, Scott T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9085742/
https://www.ncbi.nlm.nih.gov/pubmed/35534523
http://dx.doi.org/10.1038/s41598-022-11589-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9085742/
https://www.ncbi.nlm.nih.gov/pubmed/35534523
http://dx.doi.org/10.1038/s41598-022-11589-8

Ejemplares similares