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

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - Nature, 2024 - nature.com
… by current gene constraint metrics. We demonstrate that this genome-wide constraint
map improves the identification and interpretation of functional human genetic variation. …

A map of constrained coding regions in the human genome

JM Havrilla, BS Pedersen, RM Layer, AR Quinlan - Nature genetics, 2019 - nature.com
… Employing similar logic, we sought to identify localized, highly constrained coding regions
(CCRs) in the human genome. We were motivated by the idea that the absence of genetic …

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

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - BioRxiv, 2022 - biorxiv.org
… underrecognized by gene constraint metrics. We demonstrate that this genome-wide
constraint map provides an effective approach for characterizing the non-coding genome and …

[HTML][HTML] A high-resolution map of human evolutionary constraint using 29 mammals

…, Baylor College of Medicine Human Genome … - Nature, 2011 - nature.com
… interpreting functional elements in the human genome on the basis of their … constraint
using 29 eutherian (placental) genomes. We identify 4.2% of the human genome as constrained

A high-resolution recombination map of the human genome

A Kong, DF Gudbjartsson, J Sainz, GM Jonsdottir… - Nature …, 2002 - nature.com
human genome has been constrained by the limited resolution and accuracy of existing genetic
maps and the draft genome … , to build a high-resolution genetic map meant to: (i) improve …

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

EH Margulies, GM Cooper, G Asimenos… - Genome …, 2007 - genome.cshlp.org
… the human genome. Here, we present orthologous sequence generation, alignment, and
evolutionary constraint … This map was used to “undo” the genomic rearrangements of the other …

[HTML][HTML] Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - Nature, 2024 - nature.com
Author Correction: A genomic mutational constraint map using variation in 76,156 human
genomes | Nature … National Human Genome Research Institute, National Institutes of …

A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
human traits, including diseases 9,14,24,41 . The aim of this Analysis is to create a CNV map
of the human genome for … This CNV map has been generated with certain constraints. First, …

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

DL Goode, GM Cooper, J Schmutz, M Dickson… - Genome …, 2010 - genome.cshlp.org
… majority of variants at functionally constrained sites in human genomes is noncoding. …
Evolutionary constraint may also be of use in the fine-mapping of causative alleles after an …

[HTML][HTML] An integrated map of genetic variation from 1,092 human genomes

1000 Genomes Project Consortium - Nature, 2012 - ncbi.nlm.nih.gov
genomes of 1,092 individuals from 14 populations, constructed using a combination of
low-coverage whole-genome … sources we provide a validated haplotype map of 38 million SNPs, …