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

…, KM Laricchia, A Ganna, DP Birnbaum, LD Gauthier… - Nature, 2020 - nature.com
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 function …

Scaling accurate genetic variant discovery to tens of thousands of samples

…, DE Kling, LD Gauthier, A Levy-Moonshine, D Roazen… - BioRxiv, 2017 - biorxiv.org
Comprehensive disease gene discovery in both common and rare diseases will require the
efficient and accurate detection of all classes of genetic variation across tens to hundreds of …

[HTML][HTML] A structural variation reference for medical and population genetics

…, LC Francioli, AV Khera, C Lowther, LD Gauthier… - Nature, 2020 - nature.com
Structural variants (SVs) rearrange large segments of DNA 1 and can have profound
consequences in evolution and human disease 2 , 3 . As national biobanks, disease-association …

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

…, KM Laricchia, A Ganna, DP Birnbaum, LD Gauthier… - biorxiv, 2019 - biorxiv.org
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism’s …

[PDF][PDF] Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

…, C Mason, C Farnham, C Tolonen, LD Gauthier… - Cell Genomics, 2022 - cell.com
Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

…, Q Wang, J Alföldi, NA Watts, C Vittal, LD Gauthier… - BioRxiv, 2022 - biorxiv.org
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

M Babadi, JM Fu, SK Lee, AN Smirnov, LD Gauthier… - Nature …, 2023 - nature.com
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …

A genomic mutational constraint map using variation in 76,156 human genomes

…, Q Wang, J Alföldi, NA Watts, C Vittal, LD Gauthier… - Nature, 2024 - nature.com
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders 1 , 2 , 3 – 4 …

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

…, J Alföldi, LC Francioli, LD Gauthier… - Nature …, 2020 - nature.com
Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing on the
same haplotype in an individual, are a clinically and biologically important class of genetic …

[HTML][HTML] Centers for Mendelian Genomics: A decade of facilitating gene discovery

…, VS Ganesh, KV Garimella, LD Gauthier, D Giroux… - Genetics in …, 2022 - Elsevier
Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the role …