Phenogenon: Gene to phenotype associations for rare genetic diseases

As high-throughput sequencing is increasingly applied to the molecular diagnosis of rare Mendelian disorders, a large number of patients with diverse phenotypes have their genetic and phenotypic data pooled together to uncover new gene-phenotype relations. We introduce Phenogenon, a statistical tool...

Descripción completa

Detalles Bibliográficos
Autores principales: Pontikos, Nikolas, Murphy, Cian, Moghul, Ismail, Arno, Gavin, Fujinami, Kaoru, Fujinami, Yu, Sumodhee, Dayyanah, Downes, Susan, Webster, Andrew, Yu, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144978/
https://www.ncbi.nlm.nih.gov/pubmed/32271766
http://dx.doi.org/10.1371/journal.pone.0230587

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144978/
https://www.ncbi.nlm.nih.gov/pubmed/32271766
http://dx.doi.org/10.1371/journal.pone.0230587

Ejemplares similares