Laura D. Gauthier

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

34h-index32.3kcitations71works102.02yr avg
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Research Topics

Genomics and Rare Diseases(39), Genomic variations and chromosomal abnormalities(17), Genomics and Phylogenetic Studies(12), Genetic Associations and Epidemiology(9), Genomics and Chromatin Dynamics(8)

Publications70 total

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Nature Communications·2025· 3 citedOpen Access
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
2025· 1 citedOpen Access
P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis
Genetics in Medicine Open·2025Open Access
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Nature Neuroscience·2024· 39 citedOpen Access
Genomic data in the All of Us Research Program
Nature·2024· 617 citedOpen Access
Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Nature Genetics·2024Open Access
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2024· 157 citedOpen Access
O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
Genetics in Medicine Open·2024Open 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
CHARR efficiently estimates contamination from DNA sequencing data
The American Journal of Human Genetics·2023· 9 citedOpen Access
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Nature Genetics·2023· 102 citedOpen Access
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
The American Journal of Human Genetics·2023· 50 citedOpen Access
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Nature Medicine·2023Open Access
CHARR efficiently estimates contamination from DNA sequencing data
2023· 3 citedOpen Access
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Nature Medicine·2023· 54 citedOpen Access
GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank
2022· 12 citedOpen Access
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics·2022· 564 citedOpen Access
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
Cell Genomics·2022· 277 citedOpen Access
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
2022· 322 citedOpen Access
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Frequent Co-authors

Eric Banks(29), Konrad J. Karczewski(27), Beryl B. Cummings(24), Ryan L. Collins(24), Anne O’Donnell‐Luria(23), Mark J. Daly(22), Nicholas A. Watts(22), Grace Tiao(21), Stacey Gabriel(21), Daniel G. MacArthur(21), Namrata Gupta(20), Laurent C. Francioli(20), Valentín Ruano-Rubio(19), Benjamin M. Neale(18), Jessica Alföldi(18), Matthew Solomonson(18), Timothy Poterba(18), Stacey Donnelly(17), Harrison Brand(17), Yossi Farjoun(17)