Nature Genetics

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  • 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.' );return false" > Annotation-free quantification of RNA splicing using LeafCutter
  • 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.' );return false" > Molecular and functional variation in iPSC-derived sensory neurons
  • 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.' );return false" > TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells
  • 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.' );return false" > Dynamic epigenomic landscapes during early lineage specification in mouse embryos
  • 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.' );return false" > The hammer of reason
  • 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.' );return false" > Evolutionary insights from wild vervet genomes
  • 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.' );return false" > Correcting CRISPR for copy number
  • 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.' );return false" > Mismatch repair prefers exons
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