The functional impact of rare variation across the regulatory cascade

The functional impact of rare variation across the regulatory cascade

Summary: 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, w...

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Bibliographic Details
Main Authors: Taibo Li, Nicole Ferraro, Benjamin J. Strober, Francois Aguet, Silva Kasela, Marios Arvanitis, Bohan Ni, Laurens Wiel, Elliot Hershberg, Kristin Ardlie, Dan E. Arking, Rebecca L. Beer, Jennifer Brody, Thomas W. Blackwell, Clary Clish, Stacey Gabriel, Robert Gerszten, Xiuqing Guo, Namrata Gupta, W. Craig Johnson, Tuuli Lappalainen, Henry J. Lin, Yongmei Liu, Deborah A. Nickerson, George Papanicolaou, Jonathan K. Pritchard, Pankaj Qasba, Ali Shojaie, Josh Smith, Nona Sotoodehnia, Kent D. Taylor, Russell P. Tracy, David Van Den Berg, Matthew T. Wheeler, Stephen S. Rich, Jerome I. Rotter, Alexis Battle, Stephen B. Montgomery
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:Cell Genomics
Subjects:
rare variants
multi-omics
functional genomics
machine learning
transcriptome
proteome
Online Access:http://www.sciencedirect.com/science/article/pii/S2666979X2300215X

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http://www.sciencedirect.com/science/article/pii/S2666979X2300215X

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