Variant Pathogenicity Predictions in Clinical Reporting
When
4 p.m., Oct. 16, 2018
Speaker
Abstract
Our genomes contain millions of variable sites and the vast majority are not linked to disease. Determining which sites are damaging is an important goal in clinical genetics. This talk will focus on how in silico pathogenicity prediction scores are used in conjunction with other factors to determine how genetic variants are assessed by clinical laboratories and organized into reports for patients and physicians. We will discuss many reasons annotation can be challenging, as well as the professional guidelines issued by the American College of Medical Genetics and Genomics and their limitations.