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Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

Publication: Journal Article

Hormozdiari, Farhad, Steven Gazal, Bryce Geijn, Hilary Finucane, Chelsea Ju, Po-Ru Loh, Armin Schoech, et al. 2018. “Leveraging Molecular Quantitative Trait Loci to Understand the Genetic Architecture of Diseases and Complex Traits”. Nat Genet 50 (7): 1041-47.

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

Publication: Journal Article

Gazal, Steven, Po-Ru Loh, Hilary Finucane, Andrea Ganna, Armin Schoech, Shamil Sunyaev, and Alkes Price. 2018. “Functional Architecture of Low-Frequency Variants Highlights Strength of Negative Selection across Coding and Non-Coding Annotations”. Nat Genet 50 (11): 1600-1607.

Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

Publication: Journal Article

Márquez-Luna, Carla, Steven Gazal, Po-Ru Loh, Samuel Kim, Nicholas Furlotte, Adam Auton, 23andMe Research Team, and Alkes Price. 2021. “Incorporating Functional Priors Improves Polygenic Prediction Accuracy in UK Biobank and 23andMe Data Sets”. Nat Commun 12 (1): 6052.

Po-Ru Loh

Person: Associate Professor, Harvard Medical School, Associate Member, Broad Institute of MIT and Harvard

Po-Ru completed a B.S. in Mathematics at Caltech and a Ph.D. in Applied Mathematics at MIT with Bonnie Berger. He then trained as a postdoc in Statistical Genetics with Alkes Price at the Harvard T.H. Chan School of Public Health. Once upon a time, Po-Ru competed in math olympiads, the Putnam...

Simone Rubinacci

Person: Postdoctoral Fellow, Harvard Medical School

Simone obtained a DPhil from the University of Oxford, where he developed methods for haplotype phasing and genotype imputation. He then moved to the University of Lausanne for a postdoc, where he extended his work to low-pass sequencing data. Simone's research focuses on developing efficient...

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Po-Ru Loh receives Sloan Research Fellowship

News: February 19, 2019

Po-Ru Loh has been awarded a 2019 Sloan Research Fellowship in Computational and Evolutionary Molecular Biology.

Upcoming presentations on clonal hematopoiesis

News: January 26, 2018

Po-Ru Loh will be presenting work on mosaic CNV detection using long-range phasing at the Broad Institute MIA Seminar on Wed 2/21 (with Giulio Genovese), the MIT Bioinformatics Seminar on Wed 2/21, and the UCLA Computational Genomics Winter Institute on Mon 2/26.

New preprint on mosaic copy number variants in autism

News: January 28, 2020

We are excited to share a new preprint, " Large mosaic copy number variations confer autism risk" (Sherman et al.), reporting mosaic CNVs we identified in genotyping data from the Simons Simplex Collection. We demonstrate a significant burden of large (>4 Mb) mosaic CNVs in ASD probands compared to...