Dear everyone,
I would like to have statistics backing up a likely pathogenic rare variant that is segregating with the disease in a five-generation family.
We have sequencing data from 17 individuals
2 affected (hemizygous)
5 carrier females (heterozygous)
10 unaffected
(see attachment, sequenced individuals (17n=) are circled).
How can a get a p=value for the association of this variant to the phenotype?
Unfortunately I have very limited (read no) experience with R and similar and would therefore need "pen and paper mathematics"-approach or some kind of software that can help me.
Thank you,
Sanna
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