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A general framework for identifying oligogenic combinations of rare variants in complex disorders

Genetic studies of complex disorders such as autism and intellectual disability (ID) are often based on enrichment of individual rare variants or their aggregate burden in affected individuals compared to controls. However, these studies overlook the influence of combinations of rare variants that m...

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Detalles Bibliográficos
Autores principales: Pounraja, Vijay Kumar, Girirajan, Santhosh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9104696/
https://www.ncbi.nlm.nih.gov/pubmed/35301265
http://dx.doi.org/10.1101/gr.276348.121