标题
Loss-of-function variants in the genomes of healthy humans
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 19, Issue R2, Pages R125-R130
出版商
Oxford University Press (OUP)
发表日期
2010-08-31
DOI
10.1093/hmg/ddq365
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Alternative splicing and evolution: diversification, exon definition and function
- (2010) Hadas Keren et al. NATURE REVIEWS GENETICS
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates
- (2010) Zhengdong D Zhang et al. GENOME BIOLOGY
- A Genome-wide Survey of the Prevalence and Evolutionary Forces Acting on Human Nonsense SNPs
- (2009) Bryndis Yngvadottir et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree
- (2009) Yali Xue et al. CURRENT BIOLOGY
- The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
- (2009) K. D. Pruitt et al. GENOME RESEARCH
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- (2009) Patrick S Tarpey et al. NATURE GENETICS
- Sequencing technologies — the next generation
- (2009) Michael L. Metzker NATURE REVIEWS GENETICS
- The promise and reality of personal genomics
- (2009) Bryndis Yngvadottir et al. GENOME BIOLOGY
- Adaptive Evolution of UGT2B17 Copy-Number Variation
- (2008) Yali Xue et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evolutionary dynamics of the human ABO gene
- (2008) Francesc Calafell et al. HUMAN GENETICS
- Genetic Variation in an Individual Human Exome
- (2008) Pauline C. Ng et al. PLoS Genetics
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