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

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, Sparso, Thomas, Tang, Meifang, Wu, Honglong, Wu, Renhua, Yu, Chang, Zheng, Hancheng, Astrup, Arne, Bolund, Lars, Holmkvist, Johan, Jorgensen, Torben, Kristiansen, Karsten, Schmitz, Ole, Schwartz, Thue W., Zhang, Xiuqing, Li, Ruiqiang, Yang, Huanming, Wang, Jian, Hansen, Torben, Pedersen, Oluf, Nielsen, Rasmus and Wang, Jun (2010) Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nature Genetics, 42 11: 969-972. doi:10.1038/ng.680

Author 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
Sparso, Thomas
Tang, Meifang
Wu, Honglong
Wu, Renhua
Yu, Chang
Zheng, Hancheng
Astrup, Arne
Bolund, Lars
Holmkvist, Johan
Jorgensen, Torben
Kristiansen, Karsten
Schmitz, Ole
Schwartz, Thue W.
Zhang, Xiuqing
Li, Ruiqiang
Yang, Huanming
Wang, Jian
Hansen, Torben
Pedersen, Oluf
Nielsen, Rasmus
Wang, Jun
Title Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2010-11
Sub-type Article (original research)
DOI 10.1038/ng.680
Open Access Status Not yet assessed
Volume 42
Issue 11
Start page 969
End page 972
Total pages 4
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Abstract 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 identified 121,870 SNPs in the sample population, including 53,081 coding SNPs (cSNPs). Using a statistical method for SNP calling and an estimation of allelic frequencies based on our population data, we derived the allele frequency spectrum of cSNPs with a minor allele frequency greater than 0.02. We identified a 1.8-fold excess of deleterious, non-syonomyous cSNPs over synonymous cSNPs in the low-frequency range (minor allele frequencies between 2% and 5%). This excess was more pronounced for X-linked SNPs, suggesting that deleterious substitutions are primarily recessive.
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Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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