Article

Significant abundance of <i>cis</i> configurations of mutations in diploid human genomes

2017-11-17

Abstract excerpt

To fully understand human genetic variation, one must assess the specific distribution of variants between the two chromosomal homologues of genes, and any functional units of interest, as the phase of variants can significantly impact gene function and phenotype. To this end, we have systematically analyzed 18,121 autosomal protein-coding genes in 1,092 statistically phased genomes from the 1000 Genomes Project,...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3e98765b-faa3-5dc9-b9df-15d0a5347886
DOI: 10.1101/221085

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Significant abundance of <i>cis</i> configurations of mutations in diploid human genomesDOI 10.1101/221085Read

Analysis of 1276 Haplotype-Resolved Genomes Allows Characterization of Cis- and Trans-Abundant Genes.Semantic proximity Read

Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes.Semantic proximity Read

A genome-wide mutational constraint map quantified from variation in 76,156 human genomesSemantic proximity Read

Inferring compound heterozygosity from large-scale exome sequencing data.Semantic proximity Read

The Extent of Edgetic Perturbations in the Human Interactome Caused by Population-Specific MutationsSemantic proximity Read

Multilayer view of pathogenic SNVs in human interactome through <i>in-silico</i> edgetic profilingSemantic proximity Read

Structural variation, selection, and diversification of the <i>NPIP</i> gene family from the human pangenomeSemantic proximity Read

The Extent of Edgetic Perturbations in the Human Interactome Caused by Population-Specific Mutations.Semantic proximity Read

A genomic mutational constraint map using variation in 76,156 human genomes.Semantic proximity Read

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.Semantic proximity Read

Local fitness and epistatic effects lead to distinct patterns of linkage disequilibrium in protein-coding genesSemantic proximity Read

Mapping the Constrained Coding Regions in the human genome to their corresponding proteinsSemantic proximity Read