3 Matching Annotations
  1. Jun 2022
  2. www.biorxiv.org www.biorxiv.org
    Pooled-parent exome sequencing to prioritise de novo variants in genetic disease
    1
    1. azankl 16 Jun 2022
      An average individual exome has 10,000-12,000non-synonymous variants [13], 120 protein truncating variants, and ~54 variants previouslyreported as pathogenic
      exome
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    biorxiv.org/content/10.1101/601740v1.full.pdf
  3. Nov 2017
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    EXCAVATOR: detecting copy number variants from whole-exome sequencing data
    1
    1. rschulz 06 Nov 2017
      EXCAVATOR: detecting copy number variants from whole-exome sequencing data
      CNV exome EXCAVATOR analysis-tool
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    ncbi.nlm.nih.gov/pmc/articles/PMC4053953/
  5. Sep 2017
  6. www.nature.com www.nature.com
    A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence
    1
    1. rschulz 04 Sep 2017
      A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence
      exome intelligence statistical-genetics Templeton
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    nature.com/mp/journal/v21/n8/full/mp2015108a.html