Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The abundance of deleterious polymorphisms in humans.

Genetics - 1 Apr 2012

Subramanian Sankar

Abstract excerpt

Here I show a gradual decline in the proportion of deleterious nonsynonymous SNPs (nSNPs) from tip to root of the human population tree. This study reveals that up to 48% of nSNPs specific to a single genome are deleterious in nature, which underscores the abundance of deleterious polymorphisms in humans.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptation, Biological
Share to Amino Acid Substitution
Share to Ethnicity

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Evolution, Molecular

Share to Genetics, Population

Share to Genome, Human

Share to Phylogeny

Share to Time Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 22267501
DOI: 10.1534/genetics.111.137893
PMCID: PMC3316666

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The abundance of deleterious polymorphisms in humans.PMID 22267501Read ↗

Quantifying harmful mutations in human populations.Semantic proximity Read ↗

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.Semantic proximity Read ↗

Positive and negative selection on the human genome.Semantic proximity Read ↗

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.Semantic proximity Read ↗

Identification of deleterious mutations within three human genomes.Semantic proximity Read ↗

Proportionally more deleterious genetic variation in European than in African populations.Semantic proximity Read ↗

Direct evidence of an increasing mutational load in humansSemantic proximity Read ↗

Europeans have a higher proportion of high‑frequency deleterious variants than Africans.Semantic proximity Read ↗

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.Semantic proximity Read ↗

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.Semantic proximity Read ↗

The distribution of deleterious genetic variation in human populationsSemantic proximity Read ↗

The distribution of deleterious genetic variation in human populations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.