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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...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Pontikos, Nikolas, Murphy, Cian, Moghul, Ismail, Arno, Gavin, Fujinami, Kaoru, Fujinami, Yu, Sumodhee, Dayyanah, Downes, Susan, Webster, Andrew, Yu, Jing
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7144978/
https://ncbi.nlm.nih.gov/pubmed/32271766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0230587
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