[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 …
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 …
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
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 …
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 …
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 …
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
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
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
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 …
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 …
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 …
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 …
over the past decade. With increasing availability of exome and genome sequencing, the role …