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

Neutral and weakly nonneutral sequence variants may define individuality.

Proceedings of the National Academy of Sciences of the United States of America - 27 Aug 2013

Bromberg Yana, Kahn Peter C, Rost Burkhard

Abstract excerpt

Large-scale computational analyses of the growing wealth of genome-variation data consistently tell two distinct stories. The first is expected: coding variants reported in disease-related databases significantly alter the function of affected proteins. The second is surprising: the genomes of healthy individuals appear to carry many variants that are predicted to have some effect on function. As long as the...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Variation
Share to Genome, Human
Share to Individuality

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Sequence Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 23940345
DOI: 10.1073/pnas.1216613110
PMCID: PMC3761624

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neutral and weakly nonneutral sequence variants may define individuality.PMID 23940345Read ↗

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

Loss-of-function variants in the genomes of healthy humans.Semantic proximity Read ↗

Common sequence variants affect molecular function more than rare variants?Semantic proximity Read ↗

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

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

Deleterious Variants Contribute Minimal Excess Risk in Large-Scale TestingSemantic proximity Read ↗

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

Missense variants in health and disease affect distinct functional pathways and proteomics featuresSemantic proximity Read ↗

Genetic variation in an individual human exome.Semantic proximity Read ↗

Are transient protein-protein interactions more dispensable?Semantic proximity Read ↗

Deleterious Variants Contribute Minimal Excess Risk in Large-Scale TestingSemantic proximity Read ↗

Quantifying harmful mutations in human populations.Semantic proximity Read ↗

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