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Search results for: Whole-exome sequencing

Whole-exome sequencing and the potential for obesity treatment

Researchers have demonstrated the potential of large-scale whole-exome sequencing in facilitating therapeutic target discovery to combat obesity. The recent upsurge […]

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 […]

GEN-COVID study uses whole-exome sequencing to unravel COVID-19 susceptibility

A team of researchers from Italy have identified multiple genetic variants that could play a role in determining the severity […]

Exome sequencing data from UK Biobank links protein-coding variants to health

A massive effort using exome sequencing data from more than 450,000 UK Biobank participants has revealed rare and common gene […]

Whole genome, whole exome or panel sequencing in precision oncology clinical trials

With a wealth of genomic technologies rapidly advancing with falling cost, implementing genomics into trials and routine care is becoming […]

New study of heart defects and autism identifies causative genes

By studying genetic data from people born with congenital heart disease or autism, researchers have uncovered almost two dozen genes […]

AI has been used to rapidly diagnose critically ill patients with rare genetic diseases

Recently, researchers used Fabric GEM, an artificial intelligence algorithm, to detect disease causing variants in newborns and rare disease patients […]

Effect of WGS on clinical management in acutely ill infants

Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants. However, before wide-spread adoption and implementation, […]

Does genomics hold the key for African cancer care?

Researchers recently explored whether the genetic landscape of tumours could be captured through blood collection in African women with breast […]

World of Genomics: Japan

In the latest World of Genomics entry, we shine a spotlight on the land of the rising sun – Japan. […]