全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Meiling Liu , Sanghoon Moon , Longfei Wang ...
来源:[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer
摘要:Copy number variation (CNV) is known to play an important role in the genetics of complex diseases and several methods have been proposed to detect association of CNV with phenotypes of interest. Statistical methods for CNV association analysis can be categorized into two differe...
作者:Seyed Amir Malekpour , Hamid Pezeshk , Mehdi Sadeghi
来源:[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer
摘要:Copy Number Variation (CNV) is envisaged to be a major source of large structural variations in the human genome. In recent years, many studies apply Next Generation Sequencing (NGS) data for the CNV detection. However, still there is a necessity to invent more accurate computati...
作者:Rajini R. Haraksingh , Alexej Abyzov , Alexander Eckehart Urban
来源:[J].BMC Genomics(IF 4.397), 2017, Vol.18 (1)Springer
摘要:... We systematically compared the genome-wide CNV detection power of all 17 available array designs from the Affymetrix, Agilent, and Illumina platforms by hybridizing the well-characterized genome of 1000 Genomes Project subject NA12878 to all arrays, and performing data analys...
作者:Pubudu Saneth Samarakoon , Hanne Sørmo Sorte , Asbjørg Stray-Pedersen ...
来源:[J].BMC Genomics(IF 4.397), 2016, Vol.17 (1)Springer
摘要:... However, exonic CNV prediction programs have shown high false positive CNV counts, which is the major limiting factor for the applicability of these programs in clinical studies.(#br) Results(#br)We have developed a tool (cnvScan) to improve the clinical utility of computatio...
作者:Agnieszka Zmienko , Anna Samelak-Czajka , Piotr Kozlowski ...
来源:[J].BMC Genomics(IF 4.397), 2016, Vol.17 (1)Springer
摘要:... In the model plant Arabidopsis thaliana at least several hundred protein-coding genes might display CNV; however, locus-specific genotyping studies in this plant have not been conducted.(#br) Results(#br)We analyzed the natural CNVs in the region overlapping MSH2 gene that...
作者:A. Urnikyte , I. Domarkiene , S. Stoma ...
来源:[J].BMC Genetics(IF 2.808), 2016, Vol.17 (1)Springer
摘要:Abstract(#br) Background(#br)Although copy number variation (CNV) has received much attention, knowledge about the characteristics of CNVs such as occurrence rate and distribution in the genome between populations and within the same population is still insufficient. In this stu...
作者:Yahui Gao , Jianping Jiang , Shaohua Yang ...
来源:[J].BMC Genomics(IF 4.397), 2017, Vol.18 (1)Springer
摘要:... CNV detection opens a new avenue for exploring genes associated with complex traits in humans, animals and plants. Herein, we present a genome-wide assessment of CNVs that are potentially associated with milk composition traits in dairy cattle.
作者:Eleni Ioanna Delatola , Emilie Lebarbier , Tristan Mary-Huard ...
来源:[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer
摘要:... It has been successfully used to illustrate the role of mechanisms such as copy number variation (CNV) or epigenetic alterations as factors that may significantly alter expression in large chromosomal regions (gene silencing or gene activation).
作者:Andreas R. Gschwind , Anjali Singh , Ulrich Certa ...
来源:[J].BMC Genomics(IF 4.397), 2017, Vol.18 (1)Springer
摘要:... We have generated a genome-wide CNV map for Cynomolgus monkeys ( Macaca fascicularis ). This crab-eating macaque is the closest animal model to humans that is used in biomedical research.
作者:Yang Zhou , Yuri T. Utsunomiya , Lingyang Xu ...
来源:[J].BMC Genomics(IF 4.397), 2016, Vol.17 (1)Springer
摘要:Abstract(#br) Background(#br)Apart from single nucleotide polymorphism (SNP), copy number variation (CNV) is another important type of genetic variation, which may affect growth traits and play key roles for the production of beef cattle. To date, no genome-wide association study...

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