Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
Sign Up to like & getrecommendations! Published in 2018 at "Journal of human genetics"
DOI: 10.1038/s10038-018-0523-y
Abstract: Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified… read more here.
Keywords: locus allelic; allelic heterogeneity; hereditary spastic; paraplegia ... See more keywords
MARS: leveraging allelic heterogeneity to increase power of association testing
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DOI: 10.1186/s13059-021-02353-8
Abstract: In standard genome-wide association studies (GWAS), the standard association test is underpowered to detect associations between loci with multiple causal variants with small effect sizes. We propose a statistical method, Model-based Association test Reflecting causal… read more here.
Keywords: allelic heterogeneity; mars leveraging; leveraging allelic; power ... See more keywords
Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences
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DOI: 10.1371/journal.pgen.1009019
Abstract: Loci identified in genome-wide association studies (GWAS) can include multiple distinct association signals. We sought to identify the molecular basis of multiple association signals for adiponectin, a hormone involved in glucose regulation secreted almost exclusively… read more here.
Keywords: loci; allelic heterogeneity; association; association signals ... See more keywords
Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1134849
Abstract: Introduction: Human spermatogenesis is a highly intricate process that requires the input of thousands of testis-specific genes. Defects in any of them at any stage of the process can have detrimental effects on sperm production… read more here.
Keywords: tex15 variants; spermatogenic failure; men spermatogenic; genomic study ... See more keywords