Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations [0.03%]
横跨人类、黑猩猩、尼安德特人和丹尼索瓦人的基因组序列对比发现了一些可能是代偿的新型突变
Guojie Zhang,Zhang Pei,Edward V Ball et al.
Guojie Zhang et al.
The recent publication of the draft genome sequences of the Neanderthal and a ∼50,000-year-old archaic hominin from Denisova Cave in southern Siberia has ushered in a new age in molecular archaeology. We previously cross-compared the human...
Comparative Study
Human genomics. 2011 Jul;5(5):453-84. DOI:10.1186/1479-7364-5-5-453 2011
Analysis of molecular aberrations of Wnt pathway gladiators in colorectal cancer in the Kashmiri population [0.03%]
克什米尔人群结直肠癌Wnt途径关键分子异常的分析研究
A Syed Sameer,Zaffar A Shah,Safiya Abdullah et al.
A Syed Sameer et al.
The development and progression of colorectal cancer (CRC) is a multi-step process, and the Wnt pathways with its two molecular gladiators adenomatous polyposis coli (APC) and β-catenin plays an important role in transforming a normal tiss...
Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration [0.03%]
验证用于估计发展成为年龄相关性黄斑变性的脉络膜新生血管风险的基因模型的临床效度
Gregory S Hageman,Karen Gehrs,Serguei Lejnine et al.
Gregory S Hageman et al.
Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are heterogeneous and control coll...
Multicenter Study
Human genomics. 2011 Jul;5(5):420-40. DOI:10.1186/1479-7364-5-5-420 2011
Human genomics begins ePub ahead of print and a discussion forum aiming to bridge academia with the pharmaceutical industry [0.03%]
人类基因组学开始出版电子书并启动线上论坛以促进学术界和医药行业之间的交流
Vasilis Vasiliou
Vasilis Vasiliou
Pathway annotation and analysis with Reactome: the solute carrier class of membrane transporters [0.03%]
利用Reactome对溶质载体膜转运蛋白家族进行通路注释和分析
Bijay Jassal
Bijay Jassal
Reactome is an expert-authored, peer-reviewed knowledge base of human reactions and pathways that functions as a data-mining resource and electronic textbook. Its current release covers approximately 23 per cent of the complete human proteo...
Philippe Lamy,Jakob Grove,Carsten Wiuf
Philippe Lamy
The focus of this review is software for the genotyping of microarray single nucleotide polymorphisms, in particular software for Affymetrix and Illumina arrays. Different statistical principles and ideas have been applied to the constructi...
Brian Jackson,Chad Brocker,David C Thompson et al.
Brian Jackson et al.
Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cellular processes, like retino...
Analysis of pharmacogenetic traits in two distinct South African populations [0.03%]
南非两个不同人群的药理基因特性分析
Ogechi Ikediobi,Bradley Aouizerat,Yuanyuan Xiao et al.
Ogechi Ikediobi et al.
Our knowledge of pharmacogenetic variability in diverse populations is scarce, especially in sub-Saharan Africa. To bridge this gap in knowledge, we characterised population frequencies of clinically relevant pharmacogenetic traits in two d...
Comparative Study
Human genomics. 2011 May;5(4):265-82. DOI:10.1186/1479-7364-5-4-265 2011
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease [0.03%]
终止密码子单碱基替换型非无义突变与人类遗传疾病关系的meta分析研究
Stephen E Hamby,Nick S T Thomas,David N Cooper et al.
Stephen E Hamby et al.
'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untranslated region. We have performe...
Meta-Analysis
Human genomics. 2011 May;5(4):241-64. DOI:10.1186/1479-7364-5-4-241 2011
Inter-chromosomal variation in the pattern of human population genetic structure [0.03%]
人类种群基因组结构的染色体间变异模式分析
Tesfaye M Baye
Tesfaye M Baye
Emerging technologies now make it possible to genotype hundreds of thousands of genetic variations in individuals, across the genome. The study of loci at finer scales will facilitate the understanding of genetic variation at genomic and ge...