Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.
第一作者:
Ghazal,Zaboli
第一单位:
Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, SciLifeLab Uppsala, Uppsala University, Uppsala, Sweden.
作者:
医学主题词
染色体, 人(Chromosomes, Human);队列研究(Cohort Studies);计算生物学(Computational Biology);基因频率(Gene Frequency);基因检测(Genetic Testing);基因组, 人(Genome, Human);染色体结构变异(Genomic Structural Variation);基因型(Genotype);葡萄糖转运蛋白质类, 易化性(Glucose Transport Proteins, Facilitative);人类(Humans);INDEL突变(INDEL Mutation);脂肪酶(Lipase);多态性, 单核苷酸(Polymorphism, Single Nucleotide);数量性状基因座位(Quantitative Trait Loci);敏感性与特异性(Sensitivity and Specificity);序列比对(Sequence Alignment);序列分析, DNA(Sequence Analysis, DNA)
DOI
10.1038/ejhg.2011.138
PMID
21811304
发布时间
2025-05-29
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