Expressive

rs10050427 - MIR8056 - RNU6-500P

Magnitude 2.2 · 2 studies on file

Reported associations

  • A Genomics England haplotype reference panel and imputation of UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 39134668

    ABSTRACT: We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r2 = 0.75 for variants with minor allele frequencies as low as 2 × 10−4 in white British samples. The GEL-imputed UK Biobank genome-wide association analysis identified 70% of associations found by direct exome sequencing (P < 2.18 × 10−11), while extending testing of rare variants to the entire genome. Coding variants dominated the rare-variant genome-wide association results, implying less disruptive effects of rare non-coding variants. A Genomics England haplotype reference panel constructed using sequence data from 78,195 individuals

  • Larger cerebral cortex is genetically correlated with greater frontal area and dorsal thickness - Unknown journal (n.d.) · Unknown authors · PubMed 36893272

    ABSTRACT: Significance Adjusting vs. retaining global measures in analysis of brain MRI data has been a long-standing question and can have important implications for genomic studies of the cortex. Adjusting for global measures ensures that results for regions of interest are not confounded by overall larger brain size. However, adjusting for globals may throw away important signal when total and regional measures are correlated. We show that retaining vs. adjusting for global brain measures in genomic studies impacts gene discovery, particularly for fronto-parietal cortex. Understanding the genetic factors that contribute to expanded association areas in the human brain, such as the prefrontal cortex, can help provide mechanistic insight into higher human cognition and its unique developm

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