Sam Novod
Broad Institute(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, Genomics and Chromatin Dynamics
Most-Cited Works
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,856 cited
- → A genomic mutational constraint map using variation in 76,156 human genomes(2023)1,193 cited
- → A structural variation reference for medical and population genetics(2020)1,132 cited
- → A genome-wide mutational constraint map quantified from variation in 76,156 human genomes(2022)324 cited
- → Transcript expression-aware annotation improves rare variant interpretation(2020)200 cited
- → Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals(2020)189 cited
- → Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes(2024)166 cited
- → Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes(2020)138 cited
- → The effect of LRRK2 loss-of-function variants in humans(2020)109 cited