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We have released two preprints exploring mosaic chromosomal alterations in UK Biobank ( N~500K; Loh et al. bioRxiv) and BioBank Japan ( N~200K; Terao et al. bioRxiv). Highlights of these studies include discovery of several new risk loci at which acquired mutations systematically duplicate inherited...

Our work using computational techniques to explore mosaic copy-number mutations found in small fractions of cells was featured on the NIH Director's Blog: " Finding New Genetic Mutations Amid Healthy Cells"

Po-Ru Loh will be speaking about phase-based detection of mosaic chromosomal alterations at the Gordon Research Conference on Quantitative Genetics and Genomics on Tue 2/12.