Article

A map of constrained coding regions in the human genome

2017-11-16

Abstract excerpt

<h4>ABSTRACT</h4> Deep catalogs of genetic variation collected from many thousands of humans enable the detection of intraspecies constraint by revealing coding regions with a scarcity of variation. While existing techniques summarize constraint for entire genes, single metrics cannot capture the fine-scale variability in constraint within each protein-coding gene. To provide greater resolution, we have created a...

Topics

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

Identifiers and source

Literature Corpus work: 347185ee-87c3-5f51-a0cd-849ffc30cc7a
DOI: 10.1101/220814

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A map of constrained coding regions in the human genomeDOI 10.1101/220814Read

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

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

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

Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic DatabasesSemantic proximity Read

Pangenome discovery and characterization of human protein-coding duplicated genesSemantic proximity Read

The human functional genome defined by genetic diversitySemantic proximity Read

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.Semantic proximity Read

Unique signatures of highly constrained genes across publicly available genomic databases.Semantic proximity Read

The mutational constraint spectrum quantified from variation in 141,456 humansSemantic proximity Read

An integrated map of genetic variation from 1,092 human genomes.Semantic proximity Read

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning.Semantic proximity Read

Deep Sequencing of 10,000 Human GenomesSemantic proximity Read