New preprint on phenotypes observed in carriers of recessive disease variants
We are excited to share a new preprint, “A spectrum of recessiveness among Mendelian disease variants in UK Biobank” (Barton et al.), which leverages whole-exome
New preprint on phenotypic impacts of rare copy number variants
We are excited to share a new preprint, “Influences of rare copy number variation on human complex traits” (Hujoel et al.), which explores the phenotypic impact of
Protein-coding variable number tandem repeat (VNTR) paper published in Science
Ronen Mukamel and Bob Handsaker’s paper on phenotypic effects of protein-coding variable-number-of-tandem repeat (VNTR) polymorphisms (Mukamel*, Handsaker* et al. 2021 Science) is now published — congratulations, Ronen and Bob!
Three talks and a poster talk at ASHG 2021
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
New preprint on learning patterns of somatic mutation in cancer
We are excited to share a new preprint, “Learning the mutational landscape of the cancer genome” (Sherman*, Yaari*, Priebe* et al.). This work, a collaboration with
Whole-exome imputation paper published in Nature Genetics
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!