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Whole-Genome Sequence Analysis Sheds New Light on Genetics of Plasma Lipids

A whole-genome sequencing (WGS) analysis of blood lipid levels for tens of thousands of ancestrally diverse individuals is reported in Nature Communications this week. In the study, a team led by Harvard University scientists examined whole-genome sequences and harmonized lipids from 66,329 individuals across multiple ancestry groups including European, Asian, Black, Hispanic, and Samoa and associated 428 million variants with lipid levels, including roughly 400 million that had not previously been assessed in prior genetic analyses. They identify multiple lipid-related genes strongly associated with blood lipids through analysis of common and rare coding variants, and discover several associated rare non-coding variants, largely at Mendelian lipid genes. "Our systemic effort yields new insights for plasma lipids and provides a framework for population-based WGS analysis of complex traits," the study's authors write.