Article
Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability.
Nature communications - 9 May 2022
Kierczak Marcin, Rafati Nima, Höglund Julia, Gourlé Hadrien, Lo Faro Valeria, Schmitz Daniel, Ek Weronica E, Gyllensten Ulf, Enroth Stefan, Ekman Diana, Nystedt Björn, Karlsson Torgny, Johansson Åsa
Abstract excerpt
Despite the success of genome-wide association studies, much of the genetic contribution to complex traits remains unexplained. Here, we analyse high coverage whole-genome sequencing data, to evaluate the contribution of rare genetic variants to 414 plasma proteins. The frequency distribution of genetic variants is skewed towards the rare spectrum, and damaging variants are more often rare. We estimate that less...
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