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.

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. Hum Genet. 2018 Jul; 137(6-7):553-567.

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subject areas

Adolescent
Congenital Abnormalities
DNA Copy Number Variations
Female
Genetic Predisposition to Disease
Genome, Human
Genome-Wide Association Study
Genomics
Genotype
Haplotypes
Humans
Phenotype
Polymorphism, Single Nucleotide
Scoliosis

authors with profiles

PENGFEI LIU
JAMES LUPSKI
JENNIFER POSEY