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Journal Cover Nature Genetics
  [SJR: 23.762]   [H-I: 469]   [482 followers]  Follow
    
   Full-text available via subscription Subscription journal
   ISSN (Print) 1061-4036 - ISSN (Online) 1546-1718
   Published by NPG Homepage  [134 journals]
  • Bayesian inference of negative and positive selection in human cancers
    • Bayesian inference of negative and positive selection in human cancers

      Bayesian inference of negative and positive selection in human cancers, Published online: 06 November 2017; doi:10.1038/ng.3987

      NatureArticleSnippet(type=short-summary, markup=

      This study presents a probabilistic framework for inferring negative and positive selection in human cancers that addresses the problem of mutation rate variation. Applying the model to sequencing data from 17 cancer types identifies new significantly mutated genes and detects significant signals of negative selection in many cancer types.

      , isJats=true)Bayesian inference of negative and positive selection in human cancers, Published online: 2017-11-06; doi:10.1038/ng.39872017-11-06
      DOI: 10.1038/ng.3987
       
  • Reduced mutation rate in exons due to differential mismatch repair
    • Reduced mutation rate in exons due to differential mismatch repair

      Reduced mutation rate in exons due to differential mismatch repair, Published online: 06 November 2017; doi:10.1038/ng.3991

      NatureArticleSnippet(type=short-summary, markup=

      This analysis of cancer sequencing data identifies a reduced somatic mutation rate in exons and shows that this phenomenon is due to higher mismatch-repair activity in exons as compared to introns. These findings have implications for the understanding of mutational and DNA repair processes and for studying the evolution of both tumors and species.

      , isJats=true)Reduced mutation rate in exons due to differential mismatch repair, Published online: 2017-11-06; doi:10.1038/ng.39912017-11-06
      DOI: 10.1038/ng.3991
       
  • Evolution and clinical impact of co-occurring genetic alterations in
           advanced-stage EGFR-mutant lung cancers
    • Evolution and clinical impact of co-occurring genetic alterations in advanced-stage EGFR-mutant lung cancers

      Evolution and clinical impact of co-occurring genetic alterations in advanced-stage EGFR-mutant lung cancers, Published online: 06 November 2017; doi:10.1038/ng.3990

      NatureArticleSnippet(type=short-summary, markup=

      Analysis of a large cohort of EGFR-mutant lung cancer cell-free DNA samples along with longitudinal samples from a patient with EGFR-mutant lung cancer identifies pathways that inhibit EGFR-inhibitor response. Co-occurring genetic alterations influence clinical outcomes and underscore the need for combination therapies.

      , isJats=true)Evolution and clinical impact of co-occurring genetic alterations in advanced-stage EGFR-mutant lung cancers, Published online: 2017-11-06; doi:10.1038/ng.39902017-11-06
      DOI: 10.1038/ng.3990
       
  • High-throughput annotation of full-length long noncoding RNAs with capture
           long-read sequencing
    • High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing

      High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing, Published online: 06 November 2017; doi:10.1038/ng.3988

      NatureArticleSnippet(type=short-summary, markup=

      RNA Capture Long Seq (CLS) is a new method for transcript annotation that combines targeted RNA capture with long-read sequencing. CLS reannotates GENCODE lncRNAs and increases the number of validated splice junctions and transcript models for targeted loci.

      , isJats=true)High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing, Published online: 2017-11-06; doi:10.1038/ng.39882017-11-06
      DOI: 10.1038/ng.3988
       
  • Shared genetic origin of asthma, hay fever and eczema elucidates allergic
           disease biology
    • Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

      Nature Genetics, Published online: 30 October 2017; doi:10.1038/ng.3985

      This large-scale genome-wide association analysis of subjects with asthma, hay fever or eczema provides insights into the shared genetic basis of these allergic diseases. The findings suggest that these diseases partly co-occur because they share many genetic risk variants that dysregulate the expression of immune-related genes.

      Nature Genetics, Published online: 30 October 2017; doi:10.1038/ng.39852017-10-30
      DOI: 10.1038/ng.3985
       
  • Ancient hybridization and strong adaptation to viruses across African
           vervet monkey populations
    • Ancient hybridization and strong adaptation to viruses across African vervet monkey populations

      Nature Genetics, Published online: 30 October 2017; doi:10.1038/ng.3980

      Analysis of whole-genome sequencing data from 163 vervet monkeys from Africa and the Caribbean shows high diversity among taxa and identifies signatures of selection. Selection signals affect viral processes, and genes that show response to SIV in vervets but not macaques have elevated selection scores.

      Nature Genetics, Published online: 30 October 2017; doi:10.1038/ng.39802017-10-30
      DOI: 10.1038/ng.3980
       
  • Exome chip meta-analysis identifies novel loci and East Asian–specific
           coding variants that contribute to lipid levels and coronary artery
           disease
    • Exome chip meta-analysis identifies novel loci and East Asian–specific coding variants that contribute to lipid levels and coronary artery disease

      Nature Genetics, Published online: 30 October 2017; doi:10.1038/ng.3978

      A meta-analysis of exome-wide association studies for blood lipid levels in East Asian populations identifies a novel coding variant. Exome array data from the Global Lipids Genetics Consortium were integrated and led to the discovery of novel and population-specific variants associated with cholesterol and triglycerides.

      Nature Genetics, Published online: 30 October 2017; doi:10.1038/ng.39782017-10-30
      DOI: 10.1038/ng.3978
       
  • Computational correction of copy number effect improves specificity of
           CRISPR–Cas9 essentiality screens in cancer cells
    • Computational correction of copy number effect improves specificity of CRISPR–Cas9 essentiality screens in cancer cells

      Nature Genetics, Published online: 30 October 2017; doi:10.1038/ng.3984

      CERES is a new computational method to estimate gene-dependency levels from CRISPR–Cas9 essentiality screens while accounting for copy number effects and variable sgRNA activity. Applying CERES to new genome-scale CRISPR–Cas9 essentiality screen data from 342 cancer cell lines and other published data sets shows that CERES decreases false-positive results and provides consistent estimates of sgRNA activity.

      Nature Genetics, Published online: 30 October 2017; doi:10.1038/ng.39842017-10-30
      DOI: 10.1038/ng.3984
       
 
 
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