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

Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection.

Human mutation - 1 Feb 2006

Fredman David, Sawyer Sarah L, Strömqvist Linda, Mottagui-Tabar Salim, Kidd Kenneth K, Wahlestedt Claes, Chanock Stephen J, Brookes Anthony J

Abstract excerpt

We experimentally investigated more than 1,200 entries in dbSNP that would change amino-acids (nsSNPs), using various subsets of DNA samples drawn from 18 global populations (approximately 1,000 subjects in total). First, we mined the data for any SNP features that correlated with a high validation rate. Useful predictors of valid SNPs included multiple submissions to dbSNP, having a dbSNP validation statement,...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Expressed Sequence Tags

Share to Gene Frequency

Share to Genetic Variation

Share to Genetics, Population

Share to Models, Genetic

Share to Selection, Genetic

Source

Identifiers

PMID: 16429399
DOI: 10.1002/humu.20289

Genes

FST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection.PMID 16429399Read ↗

Derived SNP alleles are used more frequently than ancestral alleles as risk-associated variants in common human diseases.Semantic proximity Read ↗

Analysis of Common SNPs across Continents Reveals Major Genomic Differences between Human Populations.Semantic proximity Read ↗

Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups.Semantic proximity Read ↗

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

Disease-associated alleles in genome-wide association studies are enriched for derived low frequency alleles relative to HapMap and neutral expectations.Semantic proximity Read ↗

Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association.Semantic proximity Read ↗

A genome-wide comparison of the functional properties of rare and common genetic variants in humans.Semantic proximity Read ↗

Interrogating a high-density SNP map for signatures of natural selection.Semantic proximity Read ↗

Genome-wide detection and characterization of positive selection in human populations.Semantic proximity Read ↗

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.Semantic proximity Read ↗

Selected neuropeptide genes show genetic differentiation between Africans and non-Africans.Semantic proximity Read ↗

Natural selection has driven population differentiation in modern humans.Semantic proximity Read ↗

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