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Journal Cover Nature Genetics
  [SJR: 23.762]   [H-I: 469]   [457 followers]  Follow
    
   Full-text available via subscription Subscription journal
   ISSN (Print) 1061-4036 - ISSN (Online) 1546-1718
   Published by NPG Homepage  [135 journals]
  • Germline mutations affecting the histone H4 core cause a developmental
           syndrome by altering DNA damage response and cell cycle control
    • Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

      Nature Genetics, Published online: 18 September 2017; doi:10.1038/ng.3956

      Missense mutations affecting lysine 91 in the histone H4 core cause a developmental syndrome marked by growth delay, microcephaly and intellectual disability. These mutations cause genomic instability by interfering with H4K91 ubiquitination, leading to abnormal cell cycle progression and apoptosis during early development.

      Nature Genetics, Published online: 18 September 2017; doi:10.1038/ng.39562017-09-18
      DOI: 10.1038/ng.3956
       
  • Interpreting short tandem repeat variations in humans using mutational
           constraint
    • Interpreting short tandem repeat variations in humans using mutational constraint

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.3952

      Melissa Gymrek and colleagues estimate mutation parameters for each short tandem repeat (STR) in the human genome. They find that local sequence features impact these estimates and they create a framework for measuring constraint at STRs by comparing observed and expected mutation rates, providing a tool for prioritizing pathogenic variants.

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.39522017-09-11
      DOI: 10.1038/ng.3952
       
  • Linkage disequilibrium–dependent architecture of human complex traits
           shows action of negative selection
    • Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.3954

      Steven Gazal, Alkes Price and colleagues extend stratified LD score regression to continuous annotations. They analyze summary statistics from 56 complex diseases and traits and find that SNPs with low levels of linkage disequilibrium have larger per-SNP heritability, consistent with the action of negative selection on deleterious variants that affect complex traits.

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.39542017-09-11
      DOI: 10.1038/ng.3954
       
  • A functional genomics predictive network model identifies regulators of
           inflammatory bowel disease
    • A functional genomics predictive network model identifies regulators of inflammatory bowel disease

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.3947

      Eric Schadt and colleagues present a predictive causal model of the immune component of inflammatory bowel disease through integration of genetic, regulatory and transcriptional data. They prioritize and validate 12 of the top key drivers experimentally in mouse colitis models and human macrophages.

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.39472017-09-11
      DOI: 10.1038/ng.3947
       
  • Genome-wide association study identifies 112 new loci for body mass index
           in the Japanese population
    • Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.3951

      Yoichiro Kamatani and colleagues perform a genome-wide association study (GWAS) for body mass index using data from 173,430 Japanese individuals. They find 85 significant loci, 51 of which are novel, and use trans-ancestral meta-analysis of GWAS from European samples to identify 61 additional new loci.

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.39512017-09-11
      DOI: 10.1038/ng.3951
       
  • A meta-analysis of genome-wide association studies identifies 17 new
           Parkinson's disease risk loci
    • A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.3955

      Robert Graham and colleagues carried out a GWAS meta-analysis for Parkinson's disease (PD) and report 17 new risk loci. Their analyses support a key role for autophagy and lysosomal biology in PD risk.

      Nature Genetics, Published online: 11 September 2017; doi:10.1038/ng.39552017-09-11
      DOI: 10.1038/ng.3955
       
  • Reconstruction of enhancer–target networks in 935 samples of human
           primary cells, tissues and cell lines
    • Reconstruction of enhancer–target networks in 935 samples of human primary cells, tissues and cell lines

      Nature Genetics, Published online: 4 September 2017; doi:10.1038/ng.3950

      Kevin Yip and colleagues report a method for determining the target genes of enhancers in specific cells and tissues by combining global trends across many samples with sample-specific information, and considering the joint effect of multiple enhancers. They apply their method to reconstruct enhancer–target networks in 935 samples of human primary cells, tissues and cell lines.

      Nature Genetics, Published online: 4 September 2017; doi:10.1038/ng.39502017-09-04
      DOI: 10.1038/ng.3950
       
  • Identification of new susceptibility loci for type 2 diabetes and shared
           etiological pathways with coronary heart disease
    • Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease

      Nature Genetics, Published online: 4 September 2017; doi:10.1038/ng.3943

      Danish Saleheen, Benjamin Voight and colleagues perform genome-wide analysis of multi-ancestry cohorts to identify genetic associations with type 2 diabetes (T2D) and coronary heart disease (CHD). They find novel loci and show that 24% of T2D loci are also associated with CHD and that greater genetic risk of T2D increases risk of CHD.

      Nature Genetics, Published online: 4 September 2017; doi:10.1038/ng.39432017-09-04
      DOI: 10.1038/ng.3943
       
 
 
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