Tag: sequencing

More than 1,200 people with rare diseases have received a diagnosis thanks to the integration of large-scale genomics into the Stockholm region’s healthcare system. This is according to a study from Karolinska Institutet in Sweden that analyzed the result of the first five years of collaboration on whole genome sequencing between Karolinska University Hospital and

An in-depth analysis of the genome sequence of coronavirus circulating in Norfolk, UK by researchers at the Quadram Institute and University of East Anglia has mapped the spread of the virus, identified hidden outbreaks and provided insights into the effectiveness of interventions to stop its spread. Over 1,500 COVID-19 genomes representing 42% of positive cases

Single-cell sequencing technologies are filling in fine details in the catalog of life. Researchers at the University of Connecticut Health Center (UConn Health) and The Jackson Laboratory (JAX) have identified 40 subtypes of retinal ganglion cells (RGCs) along with the genetic markers and transcription factors that differentiate them. Thanks to recent advances in droplet-based single-cell

Thirteen patients with OXA-48-producing Klebsiella pneumoniae ST392 have been reported by Sweden and Norway between January and April 2018—all returning travellers with prior hospital admission in Gran Canaria, Spain. Whole genome sequencing showed tight clustering between the bacterial isolates from the cases. According to ECDC’s risk assessment published today, the risk for individual travellers to

The complexity of the human brain presents scientists with immense challenges as they try to find new treatments for a host of diseases and conditions. But the advent of a new technology known as single-cell RNA sequencing is opening a window into how the brain works. Researchers at the Translational Genomics Research Institute (TGen), an

Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. Whole genome sequencing carried out quickly has the potential to provide an early diagnosis, and thus improve the clinical care of these infants

Most people are familiar with A, B, AB and O blood types, but there are hundreds of additional blood group “antigens” on red blood cells—substances that can trigger the body’s immune response—that differ from person to person. Each year, up to 16 deaths reported to the Federal Drug Administration are attributed to mismatches in red