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arq5x / gemini

a lightweight db framework for exploring genetic variation.
http://gemini.readthedocs.org
MIT License
318 stars 120 forks source link

document autosomal dominant with obligate carriers #516

Open brentp opened 9 years ago

brentp commented 9 years ago

with incomplete penetrance, obligate carriers, must be coded as unknown / affected.

if the obligate carrier is called as unaffected, then we will miss this. need to document and/or have another flag that allows incomplete penetrance for 3+ generation families where the affected status skips a generation.

cc @jxchong

brentp commented 9 years ago

for cohorts, can also document using count to get, e.g. >= 10 affecteds are HET and <= 1 unaffected is HET

jxchong commented 8 years ago

The current behavior is now at least documented even if there's no specific flag: https://github.com/arq5x/gemini/pull/614#event-472500764