Article

The functional impact of rare variation across the regulatory cascade

2022-09-09

Abstract excerpt

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 (MESA) which included several hundred individuals with whole genome sequencing, transcriptomes, methylomes, and proteomes collec...

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Literature Corpus work: 2019b7a0-9981-5c2a-87f9-cc26653a6587
DOI: 10.1101/2022.09.07.507008

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