This enables accurately identifying gene mutations that do not occur in either parent's genome—mutations that have taken place in the sperm, the ovum or soon after conception. While these rare ...

In simple terms: a mutation is a stable change in genetic sequence that can be copied when cells or viruses replicate. Most mutations have no detectable effect, some contribute to disease, and a small ...

General introduction to the estimation of genetic risks -- Mendelian risk -- Risk modified by reproductive history -- Risk based upon phenotype -- Risk based upon genotype -- Familial versus new ...