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Simone Rubinacci

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...

Upcoming presentations on clonal hematopoiesis

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

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...

Po-Ru Loh receives 2022 ISCB Overton Prize

Po-Ru Loh has been awarded the International Society for Computational Biology's Overton Prize for outstanding accomplishment by an early to mid-career scientist in the field of computational biology. A big thank-you to all of the mentors, collaborators, and trainees who contributed to the work...

Two talks and two posters at ProbGen 2021

Our lab attended the Probabilistic Modeling in Genomics (ProbGen) 2021 virtual conference. Alison Barton and Maxwell Sherman spoke about their work on whole-exome imputation in UK Biobank (Alison) and deep-learning neutral somatic mutation rates in cancers (Max), and Margaux Hujoel and Ronen Mukamel...