Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

Exome-sequencing association studies have successfully linked rare protein-coding variation to risk of thousands of diseases. However, the relationship between rare deleterious compound heterozygous (CH) variation and their phenotypic impact has not been fully investigated. Here, we leverage advance...

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Detalles Bibliográficos
Autores principales: Lassen, Frederik H., Venkatesh, Samvida S., Baya, Nikolas, Zhou, Wei, Bloemendal, Alex, Neale, Benjamin M., Kessler, Benedikt M., Whiffin, Nicola, Lindgren, Cecilia M., Palmer, Duncan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350147/
https://www.ncbi.nlm.nih.gov/pubmed/37461573
http://dx.doi.org/10.1101/2023.06.29.23291992

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