Variant Nomenclature: Standard Practice and Common Glitches with George Riley, PhD

This presentation will briefly review standards for genetic variation nomenclature, including HGVS. Dr. Riley will focus particularly on some issues of variant nomenclature that frequently cause errors and challenges of representing more complex types of variation, based on the experience of the ClinVar team.

George Riley, PhD | Presenter

Staff Scientist, National Center For Biotechnology Information at the National Library of Medicine, National Institutes of Health

George Riley has a PhD in biology from Georgetown University. He did postdoctoral work in the Genetics Department at the University of Washington and at the Seattle Biomedical Research Institute. He was a forensic DNA lab director for ten years and was a laboratory assessor for the AABB, FQS and A2LA accreditation. He has worked for the past ten years on ClinVar and DNA analysis software at the National Center for Biotechnology Information at the National Library of Medicine at NIH.

Whitley Hatton, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

Whitley joined Ambry Genetics in 2020 as the Oncology Genomic Science Liaison for the mid-Atlantic territory. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Whitley previously worked at the Tulane Cancer Center as a medical genetic research analyst, helping to increase genetic testing in prostate, kidney, and other cancer patients within the genitourinary clinic. Her most recent research studies investigated family history and germline alterations in metastatic prostate cancer patients and outcomes with first-Line PD-1/PD-L1 inhibitor monotherapy for metastatic renal cell carcinoma, both of which were presented at ASCO-GU. Whitley received her Bachelor of Science degree in Biology with a concentration in genetics at Howard University. She earned her Master of Science degree in Medical Genetics at Tulane University in 2019.