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MedPage Today: Whole genome sequencing captured almost twice as many genetic abnormalities that may be responsible for disease in infants, compared with a standard targeted test, researchers found.
GENETIC ENGINEERING & BIOTECHNOLOGY NEWS: A national study, led by researchers at Tufts Medical Center, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.
STAT NEWS: There’s growing evidence that DNA sequencing can help diagnose the health care system’s youngest patients — babies in their first year of life. But a new report resurfaces a thorny challenge in researchers’ quest to turn long strings of A’s, T’s, G’s, and C’s into information doctors and patients can use: Reading the genome is one challenge, interpreting it is another.
INSIDE PRECISION MEDICINE: While the field of rare diseases has seen much progress both in diagnostics and the development of new therapies, there are still significant challenges that need to be overcome to reach the majority of the 300 million people worldwide who are affected by these conditions.
CBS8 NEWS: The Culver City 8th grader has been staying with his family at the Ronald McDonald house in San Diego for the past few months since the surgery.
TODAY: Lindzi Scharf’s “feisty” 3-year-old daughter, Evan, loved wearing sunglasses. When the little girl died last year from mitochondrial disease, Scharf turned her favorite accessory into a piece of art.
GENOMEWEB: An international team has tracked down rare glioma-related variants in seven genes through a genome sequencing study that tapped into a collection of familial glioma that began well over a decade ago.
HITConsultant.net: Chris Tackaberry, founder and CEO of Clinithink, reviews the role of AI in transforming the diagnostic odyssey, focusing on RCIGM’s work with Clinical Natural Language Processing.
NEW ZEALAND DOCTOR: In this cover story, journalist Alan Perrott grills a leader in genome sequencing and artificial intelligence on the future of healthcare.
SCITECH DAILY: International research teams have uncovered a new cause for pediatric seizures: mosaicism, a condition in which cells within the same individual have different genetic compositions.
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