Genetics

Genome sequencing illuminates rare Aicardi syndrome

As my inbox fills with ever more updates on the number of human genomes sequenced and the plummeting time and cost of next next next generation sequencing, I find myself hitting delete more and more often. Instead, I'm drawn ...

Diseases, Conditions, Syndromes

Whole genome sequencing found to rapidly enhance infection control

Whole genome sequencing can quickly isolate the specific strain of bacteria causing an outbreak, identify the source of contamination, and enable rapid infection prevention to stop the spread of infection, according to a ...

Genetics

A new era for genetic interpretation

Millions of genetic variants have been discovered over the last 25 years, but interpreting the clinical impact of the differences in a person's genome remains a major bottleneck in genomic medicine. In a paper published in ...

Genetics

Project brings whole genome sequencing into the clinic

More than 10 years after the completion of the Human Genome Project doctors are a step closer to using whole genome sequencing to diagnose and treat patients with genetic diseases. This follows a study by researchers from ...

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