We're very excited to share our ongoing work at ASHG this October! Alison Barton and Margaux Hujoel will present platform talks on penetrance of disease variants and CNV associations in UK Biobank, Maxwell Sherman will present a plenary talk on somatic mutations in cancer, and Ronen Mukamel will present a poster talk on dissecting Lp(a) genetics. Alison, Margaux, and Max all received semifinalist Charles J. Epstein Trainee Awards -- congratulations!
Alison Barton: "Incomplete penetrance of disease variants in the UK Biobank" (platform talk, Wed 10/20 at 11:15am)...
Alison Barton's paper on whole-exome imputation and subsequent association and fine-mapping analyses in UK Biobank (Barton et al. 2021 Nat Genet) is now published -- congratulations, Alison! Imputation is a statistical approach that leverages genetic data from a reference panel to enable analysis of genetic variants that are not directly measured in a cohort, thereby expanding the utility of existing data sets without incurring additional cost.... Read more about Whole-exome imputation paper published in Nature Genetics
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 presented posters on genotyping and association analysis of copy-number variants (Margaux) and variable number tandem repeats (Ronen).
Maxwell Sherman's paper on mosaic CNVs in autism (Sherman et al. 2020 Nat Neurosci) is now published -- congratulations, Max! This work, a collaboration with Chris Walsh and Peter Park, implicated large mosaic copy number variants (CNVs) arising early in embryonic development as a likely contributor to sporadic cases of autism spectrum disorder (ASD) in the Simons Simplex Collection (SSC) and SPARK data sets. Interestingly, unlike the recurrent,... Read more about ASD mosaic CNV paper published in Nature Neuroscience