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A reference panel of 64,976 haplotypes for genotype imputation
A reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies.
Genome-wide association study identifies five new schizophrenia loci
The role of common genetic variation in schizophrenia in a genome-wide association study of substantial size is examined, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
A moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS found several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene.
Systematic identification of trans eQTLs as putative drivers of known disease associations
Variants associated with cholesterol metabolism and type 1 diabetes showed similar phenomena, indicating that large-scale eQTL mapping provides insight into the downstream effects of many trait-associated variants.
Multiple common variants for celiac disease influencing immune gene expression
Variants from 13 new regions reached genome-wide significance and most contain genes with immune functions, with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection.
Controversies and priorities in amyotrophic lateral sclerosis
Identification of C9orf72 repeat expansions in patients without a family history of ALS challenges the traditional division between familial and sporadic disease.
Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA
Natural human genetic variation is relied upon to identify effects of variants on trans-gene expression (expression quantitative trait locus mapping, eQTL) in whole peripheral blood from 1,469 unrelated individuals, supporting the concept that the effects of these SNPs on expression seems to be much less multifactorial.
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Disease onset and progression are variable, with survival ranging from months to decades. Factors
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
Findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP 3 variants in ALS.
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
Evidence for an oligogenic aetiology of ALS is provided and may have important implications for the interpretation of whole exome/genome experiments designed to identify new ALS-associated genes and for genetic counselling, especially of unaffected family members.