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Journal Cover Nature Genetics
  [SJR: 23.762]   [H-I: 469]   [478 followers]  Follow
    
   Full-text available via subscription Subscription journal
   ISSN (Print) 1061-4036 - ISSN (Online) 1546-1718
   Published by NPG Homepage  [135 journals]
  • Annotation-free quantification of RNA splicing using LeafCutter
    • Annotation-free quantification of RNA splicing using LeafCutter

      Annotation-free quantification of RNA splicing using LeafCutter, Published online: 11 December 2017; doi:10.1038/s41588-017-0004-9

      LeafCutter is a new tool that identifies variable intron splicing events from RNA-seq data for analysis of complex alternative splicing. The method does not require transcript annotation and can be used to map splicing quantitative trait loci.Annotation-free quantification of RNA splicing using LeafCutter, Published online: 2017-12-11; doi:10.1038/s41588-017-0004-92017-12-11
      DOI: 10.1038/s41588-017-0004-9
       
  • Molecular and functional variation in iPSC-derived sensory neurons
    • Molecular and functional variation in iPSC-derived sensory neurons

      Molecular and functional variation in iPSC-derived sensory neurons, Published online: 11 December 2017; doi:10.1038/s41588-017-0005-8

      This study identifies regulatory variants in sensory neurons derived from induced pluripotent stem cells. Despite differentiation-induced variability, an allele-specific method allowed detection of loci influencing gene expression, chromatin accessibility and RNA splicing.Molecular and functional variation in iPSC-derived sensory neurons, Published online: 2017-12-11; doi:10.1038/s41588-017-0005-82017-12-11
      DOI: 10.1038/s41588-017-0005-8
       
  • TET proteins safeguard bivalent promoters from de novo methylation in
           human embryonic stem cells
    • TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells

      TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells, Published online: 04 December 2017; doi:10.1038/s41588-017-0002-y

      TET1, TET2 and TET3 triple-knockout (TKO) human embryonic stem cells (hESCs) exhibit bivalent promoter hypermethylation without a corresponding decrease in gene expression in the undifferentiated state. However, PAX6 promoter hypermethylation in TKO hESCs impairs neural differentiation.TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells, Published online: 2017-12-04; doi:10.1038/s41588-017-0002-y2017-12-04
      DOI: 10.1038/s41588-017-0002-y
       
  • Dynamic epigenomic landscapes during early lineage specification in mouse
           embryos
    • Dynamic epigenomic landscapes during early lineage specification in mouse embryos

      Dynamic epigenomic landscapes during early lineage specification in mouse embryos, Published online: 04 December 2017; doi:10.1038/s41588-017-0003-x

      Transcriptome, DNA methylome and Hi-C profiling of peri- and post-implantation mouse cell lineages identified allele- and lineage-specific methylation patterns. Global demethylation and remethylation correlate with megabase chromatin compartments.Dynamic epigenomic landscapes during early lineage specification in mouse embryos, Published online: 2017-12-04; doi:10.1038/s41588-017-0003-x2017-12-04
      DOI: 10.1038/s41588-017-0003-x
       
  • Evolutionary insights from wild vervet genomes
    • Evolutionary insights from wild vervet genomes

      Evolutionary insights from wild vervet genomes, Published online: 29 November 2017; doi:10.1038/ng.3992

      A new study reports genome-wide variation in 163 vervet monkeys from across their taxonomic and geographic ranges. The analysis suggests a complex history of admixture and identifies signals of repeated evolutionary selection, some of which may be linked to response to simian immunodeficiency virus.Evolutionary insights from wild vervet genomes, Published online: 2017-11-29; doi:10.1038/ng.39922017-11-29
      DOI: 10.1038/ng.3992
       
  • Correcting CRISPR for copy number
    • Correcting CRISPR for copy number

      Correcting CRISPR for copy number, Published online: 29 November 2017; doi:10.1038/ng.3994

      The CRISPR–Cas9 system enables global screens of gene function with high sensitivity and specificity, but off-target effects have been reported for CRISPR guide RNAs targeting genes that are amplified at high copy number. A new study describes a computational approach to correct for this copy number effect, increasing the specificity of CRIPSR screens to identify essential genes.Correcting CRISPR for copy number, Published online: 2017-11-29; doi:10.1038/ng.39942017-11-29
      DOI: 10.1038/ng.3994
       
  • The hammer of reason
    • The hammer of reason

      The hammer of reason, Published online: 29 November 2017; doi:10.1038/ng.3996

      In the motivation, conduct and reporting of science, there is no substitute for reason, and it must prevail whenever scientific methods are used. Similarly, scientific recommendations can only be useful if they meet with rational decision-making. Because people come to decisions from diverse viewpoints and values, listening to the values and views of scientists and non-scientists—while explicitly refraining from debate and persuasion—may point the way to determining when and where scientific ideas are of interest and likely to be adopted.The hammer of reason, Published online: 2017-11-29; doi:10.1038/ng.39962017-11-29
      DOI: 10.1038/ng.3996
       
  • Mismatch repair prefers exons
    • Mismatch repair prefers exons

      Mismatch repair prefers exons, Published online: 29 November 2017; doi:10.1038/ng.3993

      A new analysis of cancer genomes identifies a decrease in the mutation burden of exons, but not introns, as compared to expectation. This difference can be explained by preferential recruitment of the DNA mismatch repair machinery to a protein modification that marks exons.Mismatch repair prefers exons, Published online: 2017-11-29; doi:10.1038/ng.39932017-11-29
      DOI: 10.1038/ng.3993
       
 
 
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