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arq5x/inheritance_scenarios.md

Last active March 28, 2022 21:45
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mendelian violations
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inheritance_scenarios.md
dad mom kid Inheritance description
HOM_REF HOM_REF HOM_REF Expected
HOM_REF HOM_REF HET Mendelian violation (plausible de novo)
HOM_REF HOM_REF HOM_ALT Mendelian violation (implausible de novo)
HOM_REF HOM_ALT HOM_REF Mendelian violation (uniparental disomy)
HOM_REF HOM_ALT HET Expected
HOM_REF HOM_ALT HOM_ALT Mendelian violation (uniparental disomy)
HOM_REF HET HOM_REF Expected
HOM_REF HET HET Expected
HOM_REF HET HOM_ALT Mendelian violation (LoH)
HOM_ALT HOM_REF HOM_REF Mendelian violation (uniparental disomy)
HOM_ALT HOM_REF HET Expected
HOM_ALT HOM_REF HOM_ALT Mendelian violation (uniparental disomy)
HOM_ALT HOM_ALT HOM_REF Mendelian violation (implausible de novo)
HOM_ALT HOM_ALT HET Mendelian violation (plausible de novo)
HOM_ALT HOM_ALT HOM_ALT Expected
HOM_ALT HET HOM_REF Mendelian violation (LoH)
HOM_ALT HET HET Expected
HOM_ALT HET HOM_ALT Expected
HET HOM_REF HOM_REF Expected
HET HOM_REF HET Expected
HET HOM_REF HOM_ALT Mendelian violation (LoH)
HET HOM_ALT HOM_REF Mendelian violation (LoH)
HET HOM_ALT HET Expected
HET HOM_ALT HOM_ALT Expected
HET HET HOM_REF Expected
HET HET HET Expected
HET HET HOM_ALT Expected
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