Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

Article Abstract:

The studies about the allele-specific sequence differences among 4qA, 4qB, and 10q alleles which underlie the 4qA specificity of facioscapulohumeral muscular dystrophy (FSHD) are presented. Each of the haplotypes was found to have its unique sequence signature which is essential for the development of FSHD specific to single-nucleotide polymorphisms (SNPs) in the disease haplotype.

Genetic aspects, Haplotypes, Muscular dystrophy, Single nucleotide polymorphisms

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A randomization test for controlling population stratification in whole-genome association studies

Article Abstract:

A method for evaluating the significance of association scores in whole-genome cohorts with stratification which has significantly better control over false-positive rates is presented.

Usage, Human population genetics, Human genome, Randomization

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