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The State Of: Newborn Sequencing

Newborn sequencing has been a hot topic in the news in recent years. From Guinness World Records to large-scale screening […]

Healthy newborns offered whole genome sequencing to screen treatable rare genetic disorders

Genomics England have partnered with the NHS  to implement the Newborn Genomes Programme. Whole genome sequencing (WGS) will be used […]

Newborn genomic sequencing has no negative effect on families

A new study, published today in JAMA Pediatrics, has investigated the impact of newborn genomic sequencing (nGS) on parents. Their […]

RNA-sequencing of amniotic fluid cells for prenatal diagnosis of rare disorders

A team of researchers from Hong Kong have developed a proof-of-concept RNA-sequencing approach to analyse amniotic fluid to diagnose rare […]

The Changing Face of Newborn Screening

When a child is born, they typically undergo routine screening to check that they are healthy. In most countries, this […]

Should the UK sequence every newborn’s genome?

Technological advances have driven the expansion of newborn screening programs over the last two decades. Now, plans are in place […]

Rapid Whole-Genome Sequencing-Informed Precision Medicine for Critically Ill Children by Stephen F. Kingsmore

At the Festival of Genomics and Biodata 2021, we were joined by Stephen F. Kingsmore (President and CEO, Rady Children’s […]

Young people can make informed decisions about genome sequencing

A recent study, published in the European Journal of Medical Genetics, has explored the understanding, attitudes and involvement in decision-making […]

Whole-exome sequencing as a tool to detect inborn errors of metabolism

A study published in Nature Medicine has demonstrated the potential of whole-exome sequencing (WES) in detecting inborn errors of metabolism […]

The Big Challenge… With Jill Maron

With the ever-increasing potential of new technology and the exponential growth of the life sciences field, researchers are always running […]