The functional impact of rare variation across the regulatory cascade

Each human genome has tens of thousands of rare genetic variants; however, identifying impactful rare variants remains a major challenge. We demonstrate how use of personal multi-omics can enable identification of impactful rare variants by using the Multi-Ethnic Study of Atherosclerosis, which incl...

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Detalles Bibliográficos
Autores principales: Li, Taibo, Ferraro, Nicole, Strober, Benjamin J., Aguet, Francois, Kasela, Silva, Arvanitis, Marios, Ni, Bohan, Wiel, Laurens, Hershberg, Elliot, Ardlie, Kristin, Arking, Dan E., Beer, Rebecca L., Brody, Jennifer, Blackwell, Thomas W., Clish, Clary, Gabriel, Stacey, Gerszten, Robert, Guo, Xiuqing, Gupta, Namrata, Johnson, W. Craig, Lappalainen, Tuuli, Lin, Henry J., Liu, Yongmei, Nickerson, Deborah A., Papanicolaou, George, Pritchard, Jonathan K., Qasba, Pankaj, Shojaie, Ali, Smith, Josh, Sotoodehnia, Nona, Taylor, Kent D., Tracy, Russell P., Van Den Berg, David, Wheeler, Matthew T., Rich, Stephen S., Rotter, Jerome I., Battle, Alexis, Montgomery, Stephen B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589633/
https://www.ncbi.nlm.nih.gov/pubmed/37868038
http://dx.doi.org/10.1016/j.xgen.2023.100401

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