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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
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 |