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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! This exciting collaboration with Steve McCarroll's lab found that some...

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 sequencing together with imputation in UK Biobank to identify carrier effects of rare variants known to cause recessive Mendelian...