Targeted genome sequencing was found to deliver routine results more quickly and at a lower cost; lack of standardization in analytic techniques remains a barrier to diagnosis and medical care for genetic disorders in the first year of life.
During its first year, the BeginNGS newborn whole genome sequencing program welcomed 22 founding members, completed its first phase, and launched next-phase screening for 31 additional genetic disorders.
NEW ZEALAND DOCTOR: In this cover story, journalist Alan Perrott grills a leader in genome sequencing and artificial intelligence on the future of healthcare.
Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.
KGI: INNOVATION IN APPLIED LIFE SCIENCES & HEALTHCARE PODCAST: In this episode, Dr. Stephen Kingsmore discusses reviewing the first 10 years of genome-informed healthcare for children and predicting the next 10 years.
The use of diagnostic rapid whole-genome sequencing (rWGS) can play a crucial role in guiding treatment for critically ill children, researchers reported at the 2023 Critical Care Congress, in San Francisco.
California-based researchers described how they trained a deep-learning model to detect DNA mutations called mosaic mutations that could support the development of treatments for several diseases.
Rady Children’s Institute for Genomic Medicine® (RCIGM) President & CEO Stephen Kingsmore, MD, DSc, was formally inducted today as the David F. Hale Chair in Pediatric Genomic Medicine. Serving as an endowed chair is one of the highest honors in academic medicine.
