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2023

WGS More Effective than Targeted Gene Sequencing For Diagnosing Genetic Diseases in Newborns

Genetic Engineering & Biotechnology News

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.

July 11, 2023

A new study of sick infants sees potential in DNA sequencing, but also a need for better ways to interpret the genome

STAT News

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.

July 11, 2023

Tackling Rare Diseases in 2023

Inside Precision Medicine

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.

June 15, 2023

Teenage heart transplant recipient headed home after his long road to recovery

CBS8 News

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.

May 4, 2023

After her child died, this mom found a beautiful way to keep her close

TODAY

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.

April 28, 2023

Familial Glioma Study Uncovers New Risk Genes

GenomeWeb

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.

April 28, 2023

How AI is Transforming Rare Disease Diagnosis

HIT Consultant

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. 

April 6, 2023

The doctor will see your phone now: Sequencing and speedy diagnosis give chance of timely care

New Zealand Doctor

NEW ZEALAND DOCTOR: In this cover story, journalist Alan Perrott grills a leader in genome sequencing and artificial intelligence on the future of healthcare.

March 28, 2023

Researchers Identify Cause of Mysterious Cases of Childhood Epilepsy

SciTech Daily

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.

March 23, 2023

England’s National Health Service to Offer Widespread Rapid Whole Genome Sequencing for Children and Babies

Dark Daily

DARK DAILY: Research in the UK and US into how rapid WGS can prevent deaths and improve outcomes for kids with rare genetic diseases may lead to more genetic testing based in local clinical laboratories.

March 13, 2023

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