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Notes on Build 38 of the Human Genome
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references.md
  1. Deanna's biostars post
  2. MAPT alt locus
  3. MAPT under selection in Eurpeans
  4. Zody/Eichler MAPT Inversion toggling
  5. The MAPT locus—a genetic paradigm in disease susceptibility
  6. Case study for reporting variants in the VCF format.
  7. http://content.csbs.utah.edu/~rogers/ant6299/readings/Hardy-BST-33-582.pdf
  8. Kitzman/Eichler show that sample NA10847 is heterozygous H1/H2 http://www.nature.com.proxy.its.virginia.edu/nbt/journal/v29/n1/extref/nbt.1740-S1.pdf

  9. Terminology

  10. Trivia
    • H1 is more common (~80% freq in Eurpoeans). Reference genome is H1 on chr17.
      • increased risk of progressive supranuclear palsy (PSP)
      • increased risk of corticobasal degeneration (CBD) with an odds ratio (OR) of ~5
      • increased risk of Parkinson disease (OR ~1.7).
    • H2 (inverted) is at 20%
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