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

Human genome sequence variation and the influence of gene history, mutation and recombination.

Nature genetics - 1 Sept 2002

Reich David E, Schaffner Stephen F, Daly Mark J, McVean Gil, Mullikin James C, Higgins John M, Richter Daniel J, Lander Eric S, Altshuler David

Abstract excerpt

Variation in the human genome sequence is key to understanding susceptibility to disease in modern populations and the history of ancestral populations. Unlocking this information requires knowledge of the patterns and underlying causes of human sequence diversity. By applying a new population-genetic framework to two genome-wide polymorphism surveys, we find that the human genome contains sizeable regions...

Read the complete abstract on PubMed

Topics

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

Share to Computer Simulation
Share to Evolution, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to Linkage Disequilibrium

Share to Pan troglodytes

Share to Polymorphism, Single Nucleotide

Share to Recombination, Genetic

Source

Identifiers

PMID: 12161752
DOI: 10.1038/ng947

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

Human genome sequence variation and the influence of gene history, mutation and recombination.PMID 12161752Read ↗

Worldwide human relationships inferred from genome-wide patterns of variation.Semantic proximity Read ↗

The fine-scale structure of recombination rate variation in the human genome.Semantic proximity Read ↗

The influence of genomic context on mutation patterns in the human genome inferred from rare variants.Semantic proximity Read ↗

Human genome diversity: frequently asked questions.Semantic proximity Read ↗

Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid GenomesSemantic proximity Read ↗

Patterns of human genetic diversity: implications for human evolutionary history and disease.Semantic proximity Read ↗

The evolution of the human genome.Semantic proximity Read ↗

The influence of recombination on human genetic diversity.Semantic proximity Read ↗

Leveraging distant relatedness to quantify human mutation and gene conversion ratesSemantic proximity Read ↗

Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes.Semantic proximity Read ↗

The Role of Phylogenetically Conserved Elements in Shaping Patterns of Human Genomic Diversity.Semantic proximity Read ↗

Insights into human genetic variation and population history from 929 diverse genomes.Semantic proximity Read ↗

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