Kaitlin E. Samocha

The mutational constraint spectrum quantified from variation in 141,456 humans

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...

Analysis of protein-coding genetic variation in 60,706 humans

A framework for the interpretation of de novo mutation in human disease

Quantifying prion disease penetrance using large population control cohorts

Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.

A structural variation reference for medical and population genetics

Transcript expression-aware annotation improves rare variant interpretation

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

The effect of LRRK2 loss-of-function variants in humans

Abstract Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be ...