What steps can we take to resolve complex genetic regions in clinical diagnostics? As part of our Satellite Session at ESHG 2021, Senior Manager of Genomic Services Kim Gall, MS, CGC, gave a talk on solving diagnostic challenges in difficult-to-sequence regions with a special focus on hearing loss.
During her talk, Gall presented Blueprint Genetics approach to providing customized solutions for tackling challenging regions:
- Optimizing the current next-generation sequencing platform
- Developing new bioinformatic and laboratory methods to target specific difficult-to-sequence regions
- Working on individual clinical cases to resolve complex structural variants
Watch a recording of our other ESHG 2021 presentation on bringing clinical value through enhanced panel-based testing and mtDNA analysis, led by Executive Medical Director Tero-Pekka Alastalo, MD, PhD.
Kim Gall, MSc, CGC, is Senior Manager of Genomic Services at Blueprint Genetics. She received a Bachelor of Science with Honours in Human Genetics from the University of Western Ontario and a Master of Science in Genetic Counselling from the University of British Columbia. She is certified by the American Board of Genetic Counselors. Ms. Gall worked in a variety of clinical and laboratory settings across Canada before accepting a position as clinical liaison at Blueprint Genetics in 2017.