China Enabling Genomic Medicine (EGM) 2021 virtual event - now available on demand
On Wednesday 15 December, Congenica held its virtual Enabling Genomic Medicine 2021 China event. The agenda featured a range of thoughts leaders and practitioners who discussed the latest innovations and best practices in genomics that enable routine clinical care, diagnosis and treatment.
The event was moderated by Professor Richard Choy from The Chinese University of Hong Kong. He was joined by speakers:
Dr Meriel McEntagart, Consultant Clinical Geneticist at St. George's University Hospitals NHS
Dr McEntagart shared her experiences of the UK 100,000 Genomes project and showed how to improve diagnosis yield, highlighting eight case studies that demonstrate the advantage of bioinformatic tools or pipelines including Exomiser, which has been integrated into Congenica platform.
Dr Sandro Morganella, Head of AI at Congenica
Dr Morganella started by talking about the journey of a rare disease patient, providing an overview of rare diseases across the globe and the diagnostic process. He explains the interpretation bottleneck and how Congenica’s AI helps to improve the diagnosis, especially for the VUS result.
Dr Leilei YANG, Genetic Counselor at Peking Jabrehoo Med Tech Co., Ltd
Dr Leilei YANG introduced the Jabrehoo solution for reproductive genetics, and how the Congenica clinical decision support platform with Exomiser, Congenica Express, Auto-ACMG, Virtual VCF functions integrated, helps Jabrehoo in clinical practice highlighting genetics diagnosis before PGT-M, carrier screening as well as infertility genetic testing.
Dr. Chia-Shan Hsieh, Genetic Counselor at Taiwan Genomic Industry Alliance Inc.(TGIA)
Dr. Chia-Shan Hsieh shared two case studies that show how Exomiser alone and Exomiser with virtual panels, together with Auto-ACMG functions in Congenica, can finally deliver for specific cases. You can now watch recordings of all these session on demand.