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Clinical-Genomics / genmod

Annotate models of genetic inheritance patterns in variant files (vcf files)
http://moonso.github.io/genmod/
MIT License
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Add support for MT inheritance models #44

Open henrikstranneheim opened 8 years ago

henrikstranneheim commented 8 years ago
moonso commented 8 years ago

Ok so it is like AD, right?

henrikstranneheim commented 8 years ago

Yes, but the variant can only be inherited on the maternal side.

moonso commented 8 years ago
  1. Mitochondria-linked Dominant (MD): Lika AD except
    • Only on MT
    • Mother affected and “1"
    • All offspring is affected and “1”
  2. Mitochondria-linked (M):
    • Only on MT
    • Offspring can be either “0” or “1” i.e. reduced penetrance due to the bottleneck between generations (i.e. Mother to child transmission of MT subpopulation) or novel mutation in offspring
    • Mother unaffected and “0” or affected and “1"
    • Affected offspring is “1”
    • Unaffected offspring is “0"