Bacteria are among the most diverse lifeforms on Earth, so it’s no surprise that their genomes have yielded a treasure trove of fascinating discoveries. The study of bacterial genomes has led to the ...
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...
Cambridge, MA - Traditional bisulfite sequencing damages DNA, while enzyme-based alternatives are inconsistent. A novel methylation analysis method, called UMBS-seq, was published this week in Nature ...
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...
A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost. One ...