Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.

doi:10.1038/ng.680

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

Community

Back to search

Article

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.

Nature genetics - 1 Nov 2010

Li Yingrui, Vinckenbosch Nicolas, Tian Geng, Huerta-Sanchez Emilia, Jiang Tao, Jiang Hui, Albrechtsen Anders, Andersen Gitte, Cao Hongzhi, Korneliussen Thorfinn, Grarup Niels, Guo Yiran, Hellman Ines, Jin Xin, Li Qibin, Liu Jiangtao, Liu Xiao, Sparsø Thomas, Tang Meifang, Wu Honglong, Wu Renhua, Yu Chang, Zheng Hancheng, Astrup Arne, Bolund Lars, Holmkvist Johan, Jørgensen Torben, Kristiansen Karsten, Schmitz Ole, Schwartz Thue W, Zhang Xiuqing, Li Ruiqiang, Yang Huanming, Wang Jian, Hansen Torben, Pedersen Oluf, Nielsen Rasmus, Wang Jun

Abstract excerpt

Targeted capture combined with massively parallel exome sequencing is a promising approach to identify genetic variants implicated in human traits. We report exome sequencing of 200 individuals from Denmark with targeted capture of 18,654 coding genes and sequence coverage of each individual exome at an average depth of 12-fold. On average, about 95% of the target regions were covered by at least one read. We...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exons

Share to Gene Conversion

Share to Genes, Recessive

Share to Genetics, Population

Share to Human Genome Project

Share to Introns

Share to Untranslated Regions

Source

Open in PubMed

Identifiers

PMID: 20890277
DOI: 10.1038/ng.680

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.PMID 20890277Read ↗

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.Semantic proximity Read ↗

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.Semantic proximity Read ↗

The functional spectrum of low-frequency coding variation.Semantic proximity Read ↗

A deep catalogue of protein-coding variation in 983,578 individuals.Semantic proximity Read ↗

Analysis of protein-coding genetic variation in 60,706 humans.Semantic proximity Read ↗

Genomes in a bottle: creating standard reference materials for genomic variation - why, what and how?Semantic proximity Read ↗

A deep catalog of protein-coding variation in 985,830 individualsSemantic proximity Read ↗

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.Semantic proximity Read ↗

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.Semantic proximity Read ↗

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

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.Semantic proximity Read ↗

Targeted capture and massively parallel sequencing of 12 human exomes.Semantic proximity Read ↗

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