A genomic mutational constraint map using 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 …
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 …
A map of constrained coding regions in the human genome
Deep catalogs of genetic variation from thousands of humans enable the detection of
intraspecies constraint by identifying coding regions with a scarcity of variation. While …
intraspecies constraint by identifying coding regions with a scarcity of variation. While …
[HTML][HTML] The mutational constraint spectrum quantified from variation in 141,456 humans
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 …
about the phenotypic consequences of gene disruption: genes that are crucial for the …
[HTML][HTML] Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
In this Article, author Marquis P. Vawter was missing from the Genome Aggregation
Database Consortium list. They are associated with the affiliation:'Department of Psychiatry …
Database Consortium list. They are associated with the affiliation:'Department of Psychiatry …
[HTML][HTML] An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium - Nature, 2012 - ncbi.nlm.nih.gov
Through characterising the geographic and functional spectrum of human genetic variation,
the 1000 Genomes Project aims to build a resource to help understand the genetic …
the 1000 Genomes Project aims to build a resource to help understand the genetic …
[HTML][HTML] Transcript expression-aware annotation improves rare variant interpretation
The acceleration of DNA sequencing in samples from patients and population studies has
resulted in extensive catalogues of human genetic variation, but the interpretation of rare …
resulted in extensive catalogues of human genetic variation, but the interpretation of rare …
[HTML][HTML] Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Databases of human population genetic variation, such as the Genome Aggregation
Database (gnomAD), are generally expected to be depleted for variation with severe effects …
Database (gnomAD), are generally expected to be depleted for variation with severe effects …
[HTML][HTML] Integrating common and rare genetic variation in diverse human populations
International HapMap 3 Consortium - Nature, 2010 - ncbi.nlm.nih.gov
Despite great progress in identifying genetic variants that influence human disease, most
inherited risk remains unexplained. A more complete understanding requires genome-wide …
inherited risk remains unexplained. A more complete understanding requires genome-wide …
[HTML][HTML] A structural variation reference for medical and population genetics
Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …
consequences in evolution and human disease,. As national biobanks, disease-association …