Sentences with phrase «penetrance variants»

In fairness, I had a fairly unexciting 23andMe profile, absent of hidden Mendelian disease alleles or high - penetrance variants for late onset disease.

Not exact matches

To what extent the associated symptoms are expressed in the presence of the variant is captured by a term called penetrance.

Dr. Green was lead author on the original recommendations for managing incidental findings in clinical sequencing from the American College of Medical Genetics and Genomics and led the first published demonstration of aggregate penetrance of genomic variants in an unselected population.

Autosome is a chromosome that is not a sex chromosome, and when ZRS cic element of PD gene was not in proportion to the mother or father cat carrying a certain variant of a gene that is because the gene had either an incomplete or reduced penetrance.