Louis Bergelson

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

15h-index17.1kcitations24works80.02yr avg
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Research Topics

Genomics and Rare Diseases(18), Genomics and Phylogenetic Studies(5), Genomic variations and chromosomal abnormalities(4), Genomics and Chromatin Dynamics(3), CRISPR and Genetic Engineering(3)

Publications24 total

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Nature Communications·2025· 3 citedOpen Access
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2024· 157 citedOpen Access
A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2023· 1.1k citedOpen Access
Inferring compound heterozygosity from large-scale exome sequencing data
Nature Genetics·2023· 30 citedOpen Access
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
2022· 322 citedOpen Access
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (Nature Communications, (2020), 11, 1, (2539), 10.1038/s41467-019-12438-5)
Nature Communications·2021· 1 citedOpen Access
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2021· 57 citedOpen Access
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2021· 95 citedOpen Access
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nature Communications·2021· 1 citedOpen Access
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications·2021· 2 citedOpen Access
The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)
Nature·2021· 4 cited
meganshand/gatk: LinST related WDLs
Zenodo (CERN European Organization for Nuclear Research)·2020Open Access
The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2020· 9.6k citedOpen Access
A structural variation reference for medical and population genetics
Nature·2020· 1.1k citedOpen Access
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nature Communications·2020· 179 citedOpen Access
Transcript expression-aware annotation improves rare variant interpretation
Nature·2020· 198 citedOpen Access
The effect of LRRK2 loss-of-function variants in humans
Nature Medicine·2020· 108 citedOpen Access
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications·2020· 138 citedOpen Access
Evaluating drug targets through human loss-of-function genetic variation
Figshare·2020· 163 citedOpen Access
Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individuals
2019· 12 citedOpen Access
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Frequent Co-authors

Jessica Alföldi(22), Laurent C. Francioli(20), Beryl B. Cummings(20), Eric Banks(20), Ryan L. Collins(19), Laura D. Gauthier(19), Nicholas A. Watts(19), Yossi Farjoun(19), Irina M. Armean(19), Miguel Covarrubias(19), Steven Ferriera(19), Stacey Gabriel(19), Matthew Solomonson(18), Timothy Poterba(18), Kristian Cibulskis(18), Stacey Donnelly(18), Thibault Jeandet(18), Ruchi Munshi(18), Anne O’Donnell‐Luria(17), Christopher Vittal(17)