Hidden protein-altering variants influence diverse human phenotypes

Structural variants (SVs) comprise the largest genetic variants, altering from 50 base pairs to megabases of DNA. However, SVs have not been effectively ascertained in most genetic association studies, leaving a key gap in our understanding of human complex trait genetics. We ascertained protein-alt...

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Detalles Bibliográficos
Autores principales: Hujoel, Margaux L.A., Handsaker, Robert E., Sherman, Maxwell A., Kamitaki, Nolan, Barton, Alison R., Mukamel, Ronen E., Terao, Chikashi, McCarroll, Steven A., Loh, Po-Ru
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/PMC10274781/
https://www.ncbi.nlm.nih.gov/pubmed/37333244
http://dx.doi.org/10.1101/2023.06.07.544066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10274781/
https://www.ncbi.nlm.nih.gov/pubmed/37333244
http://dx.doi.org/10.1101/2023.06.07.544066

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