204 Matching Annotations
  1. Nov 2017
  2. gmt.genome.wustl.edu gmt.genome.wustl.edu
    SomaticSniper (v1.0.5.0)
    1
    1. rschulz 03 Nov 2017
      SomaticSniper
      mutation somatic cancer analysis-tool SomaticSniper
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    gmt.genome.wustl.edu/packages/somatic-sniper/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome
    1
    1. rschulz 03 Nov 2017
      tier 1 contains all changes in the amino acid coding regions of annotated exons, consensus splice-site regions, and RNA genes (including microRNA genes). Tier 2 contains changes in highly conserved regions of the genome or regions that have regulatory potential. Tier 3 contains mutations in the nonrepetitive part of the genome that does not meet tier 2 criteria, and tier 4 contains mutations in the remainder of the genome
      cancer tier mutation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3201812/
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    The background puzzle: how identical mutations in the same gene lead to different disease symptoms
    1
    1. rschulz 02 Nov 2017
      The background puzzle: how identical mutations in the same gene lead to different disease symptoms
      genetics epigenetics genetic-background penetrance review mutation
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    onlinelibrary.wiley.com/doi/10.1111/febs.14080/full
  5. Sep 2017
  6. www.nature.com www.nature.com
    Parental influence on human germline de novo mutations in 1,548 trios from Iceland
    1
    1. rschulz 29 Sep 2017
      Parental influence on human germline de novo mutations in 1,548 trios from Iceland
      germline mutation Iceland
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    nature.com/nature/journal/v549/n7673/abs/nature24018.html