Heritability of Atrial Fibrillation
Weng, Lu-Chen, Seung Hoan Choi, Derek Klarin, Gustav Smith, Po-Ru Loh, Mark Chaffin, Carolina Roselli, et al. 2017. “Heritability of Atrial Fibrillation”. Circ Cardiovasc Genet 10 (6).
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Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Loh, Po-Ru, Giulio Genovese, Robert Handsaker, Hilary Finucane, Yakir A Reshef, Pier Francesco Palamara, Brenda Birmann, et al. 2018. “Insights into Clonal Haematopoiesis from 8,342 Mosaic Chromosomal Alterations”. Nature 559 (7714): 350-55.
GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation
Terao, Chikashi, Yukihide Momozawa, Kazuyoshi Ishigaki, Eiryo Kawakami, Masato Akiyama, Po-Ru Loh, Giulio Genovese, et al. 2019. “GWAS of Mosaic Loss of Chromosome Y Highlights Genetic Effects on Blood Cell Differentiation”. Nat Commun 10 (1): 4719.
Genetic predisposition to mosaic Y chromosome loss in blood
Thompson, Deborah, Giulio Genovese, Jonatan Halvardson, Jacob Ulirsch, Daniel Wright, Chikashi Terao, Olafur Davidsson, et al. 2019. “Genetic Predisposition to Mosaic Y Chromosome Loss in Blood”. Nature 575 (7784): 652-57.
Genes with High Network Connectivity Are Enriched for Disease Heritability
Kim, Samuel, Chengzhen Dai, Farhad Hormozdiari, Bryce Geijn, Steven Gazal, Yongjin Park, Luke O’Connor, et al. 2019. “Genes With High Network Connectivity Are Enriched for Disease Heritability”. Am J Hum Genet 104 (5): 896-913.
Leveraging Polygenic Functional Enrichment to Improve GWAS Power
Kichaev, Gleb, Gaurav Bhatia, Po-Ru Loh, Steven Gazal, Kathryn Burch, Malika Freund, Armin Schoech, Bogdan Pasaniuc, and Alkes Price. 2019. “Leveraging Polygenic Functional Enrichment to Improve GWAS Power”. Am J Hum Genet 104 (1): 65-75.
A model and test for coordinated polygenic epistasis in complex traits
Sheppard, Brooke, Nadav Rappoport, Po-Ru Loh, Stephan Sanders, Noah Zaitlen, and Andy Dahl. 2021. “A Model and Test for Coordinated Polygenic Epistasis in Complex Traits”. Proc Natl Acad Sci U S A 118 (15): e1922305118.
Liability threshold modeling of case-control status and family history of disease increases association power
Hujoel, Margaux, Steven Gazal, Po-Ru Loh, Nick Patterson, and Alkes Price. 2020. “Liability Threshold Modeling of Case-Control Status and Family History of Disease Increases Association Power”. Nat Genet 52 (5): 541-47.
Monogenic and polygenic inheritance become instruments for clonal selection
Loh, Po-Ru, Giulio Genovese, and Steven McCarroll. 2020. “Monogenic and Polygenic Inheritance Become Instruments for Clonal Selection”. Nature 584 (7819): 136-41.
Incorporating family history of disease improves polygenic risk scores in diverse populations
Hujoel, Margaux LA, Po-Ru Loh, Benjamin Neale, and Alkes Price. 2022. “Incorporating Family History of Disease Improves Polygenic Risk Scores in Diverse Populations”. Cell Genom 2 (7): 100152.