John Baierl
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S4-multi: Enhancing polygenic score prediction in ancestrally diverse populations Open
Polygenic scores (PGSs) have shown promise in advancing precision medicine by capturing the additive effects of common genetic variants to assess inherited disease risk. However, their predictive accuracy remains limited in non-European po…
View article: Measuring the accuracy of electronic health record (EHR)-based phenotyping in the <i>All of Us</i> Research Program to optimize statistical power for genetic association testing
Measuring the accuracy of electronic health record (EHR)-based phenotyping in the <i>All of Us</i> Research Program to optimize statistical power for genetic association testing Open
Accurate phenotyping is an essential task for researchers utilizing electronic health record (EHR)-linked biobank programs like the All of Us Research Program ( AoU ) to study human genetics. While their large cohort sizes offer increased …
View article: Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer Open
Rare, germline loss-of-function variants in a handful of DNA repair genes are associated with epithelial ovarian cancer. The aim of this study was to evaluate the role of rare, coding, loss-of-function variants across the genome in epithel…
View article: S4-Multi: enhancing polygenic score prediction in ancestrally diverse populations
S4-Multi: enhancing polygenic score prediction in ancestrally diverse populations Open
While polygenic scores (PGSs) have shown promise in advancing precision medicine by capturing the additive effects of common germline variants on inherited disease risk, they are presently limited by reduced performance outside of European…
Exome sequencing identifies <i>HELB</i> as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer Open
Summary Rare, germline loss-of-function variants in a handful of genes that encode DNA repair proteins have been shown to be associated with epithelial ovarian cancer with a stronger association for the high-grade serous hiostotype. The ai…