A genome-wide case-only test for the detection of digenic inheritance in human exomes

Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying monogenic disorders. Incomplete penetrance and variable expressivity suggest a contribution of additional genetic lesions to clinical manifestations and outcome. Some monogenic disorders may therefore actually b...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Kerner, Gaspard, Bouaziz, Matthieu, Cobat, Aurélie, Bigio, Benedetta, Timberlake, Andrew T., Bustamante, Jacinta, Lifton, Richard P., Casanova, Jean-Laurent, Abel, Laurent
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2020
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7430978/
https://ncbi.nlm.nih.gov/pubmed/32719112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1920650117
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