Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.
作者:
主题词
无虹膜(Aniridia);染色体畸变(Chromosome Aberrations);染色体图(Chromosome Mapping);DNA拷贝数变异(DNA Copy Number Variations);家庭卫生(Family Health);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因组, 人(Genome, Human);人类(Humans);杂合子丢失(Loss of Heterozygosity);男(雄)性(Male);寡核苷酸序列分析(Oligonucleotide Array Sequence Analysis);系谱(Pedigree);表型(Phenotype);多态性, 单核苷酸(Polymorphism, Single Nucleotide);结果可重复性(Reproducibility of Results);软件(Software)
DOI
10.1371/journal.pone.0043466
PMID
22912880
发布时间
2024-11-03
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