Molecular methods for genotyping complex copy number polymorphisms

Stuart Cantsilieris; Paul N. Baird; Stefan J. White

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Molecular methods for genotyping complex copy number polymorphisms

机译：复杂拷贝数多态性基因分型的分子方法

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Genomestructuralvariationshowsremarkablecomplexitywithrespecttocopynumber,sequencecontentanddistribution.Whilethediscoveryofcopynumberpolymorphisms(CNP)hasincreasedexponentiallyinrecentyears,thetransitionfromdiscoverytogenotypinghasprovedchallenging,particularlyforCNPsembeddedincomplexregionsofthegenome.CNPsthatarecollectivelycommoninthepopulationandpossessadynamicrangeofcopynumbershaveprovedthemostdifficulttogenotypeinassociationstudies.Thisisinsomepartduetotechnicallimitationsofgenotypingassaysandthesequencepropertiesofthegenomicregionbeinganalyzed.HerewedescribeindetailthebasisofanumberofmoleculartechniquesusedtogenotypecomplexCNPs,compareandcontrasttheseapproachesfordeterminationofmulti-alleliccopynumber,anddiscussthepotentialapplicationofthesetechniquesingeneticstudies./p/div

机译：Genomestructuralvariationshowsremarkablecomplexitywithrespecttocopynumber，sequencecontentanddistribution.Whilethediscoveryofcopynumberpolymorphisms（CNP）hasincreasedexponentiallyinrecentyears，thetransitionfromdiscoverytogenotypinghasprovedchallenging，particularlyforCNPsembeddedincomplexregionsofthegenome.CNPsthatarecollectivelycommoninthepopulationandpossessadynamicrangeofcopynumbershaveprovedthemostdifficulttogenotypeinassociationstudies.Thisisinsomepartduetotechnicallimitationsofgenotypingassaysandthesequencepropertiesofthegenomicregionbeinganalyzed.HerewedescribeindetailthebasisofanumberofmoleculartechniquesusedtogenotypecomplexCNPs，compareandcontrasttheseapproachesfordeterminationofmulti-alleliccopynumber，anddiscussthepotentialapplicationofthesetechniquesingeneticstudies。

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《Genomics》 |2013年第2期|共页
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Stuart Cantsilieris; Paul N. Baird; Stefan J. White;
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中图分类医学遗传学;
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1. Molecular methods for genotyping complex copy number polymorphisms [J] . Stuart Cantsilierls, Paul N. Baird, Stefan J. White Genomics . 2013,第2期

机译：复杂拷贝数多态性基因分型的分子方法
2. CNstream: A method for the identification and genotyping of copy number polymorphisms using Illumina microarrays [J] . Arnald Alonso, Antonio Julià, Raül Tortosa, BMC Bioinformatics . 2010,第1期

机译：CNstream：一种使用Illumina芯片鉴定和鉴定拷贝数多态性的方法
3. Concordance rate between copy number variants detected using either high- or medium-density single nucleotide polymorphism genotype panels and the potential of imputing copy number variants from flanking high density single nucleotide polymorphism haplotypes in cattle [J] . Pierce Rafter, Isobel Claire Gormley, Andrew C. Parnell, BMC Genomics . 2020,第1期

机译：使用高或中密度单核苷酸多态性基因型面板检测到拷贝数变体之间的一致性速率以及从牛中侧翼的高密度单核苷酸多态性单倍型施用拷贝数变体的潜力
4. Optimization Algorithms for Identification and Genotyping of Copy Number Polymorphisms in HumanPopulations [C] . Gokhan Yavas, Mehmet Koyuturk, Thomas LaFramboise Pattern recognition in bioinformatics . 2010

机译：人 r n人群中拷贝数多态性鉴定和基因分型的优化算法
5. Detecting positive selection at the molecular level: New and revised methods for the analysis of divergence and polymorphism [D] . Wyckoff, Gerald J. 2000

机译：在分子水平上检测阳性选择：分析差异和多态性的新方法和修订方法
6. CNstream: A method for the identification and genotyping of copy number polymorphisms using Illumina microarrays [O] . Arnald Alonso, Antonio Julià, Raül Tortosa, 2010

机译：CNstream：一种使用Illumina芯片鉴定和鉴定拷贝数多态性的方法
7. Molecular methods for genotyping complex copy number polymorphisms [O] . Cantsilieris Stuart, Baird Paul N., White Stefan J. 2013

机译：复杂拷贝数多态性基因分型的分子方法

Molecular methods for genotyping complex copy number polymorphisms

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