The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease - Liu, Jiaqi; Zhou, Yangzhong; Liu, Sen; Song, Xiaofei; Yang, Xin-Zhuang; Fan, Yanhui; Chen, Weisheng; Akdemir, Zeynep Coban; Yan, Zihui; Zuo, Yuzhi; Du, Renqian; Liu, Zhenlei; et al. (Human genetics, 2018)
Keywords: Adolescent; Alleles; Biomedical and Life Sciences; Biomedicine; Coexistence; Congenital Abnormalities - genetics; Congenital Abnormalities - physiopathology; Copy number; DNA Copy Number Variations - genetics; Etiology; Female; Gene deletion; Gene Function; Genetic analysis; Genetic Predisposition to Disease; Genome, Human - genetics; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genomics; Genotype; Haplotypes; Haplotypes - genetics; Heredity; Human Genetics; Humans; Metabolic Diseases; Molecular Medicine; Original Investigation; Phenotype; Polymorphism; Polymorphism, Single Nucleotide - genetics; Recombination; Scoliosis; Scoliosis - genetics; Scoliosis - physiopathology; Single-nucleotide polymorphism; Tbx6 gene