For the last several months, the Centers for Disease Control and Prevention (CDC) has publicly shared information about the percentage of COVID-19 variants that are circulating in the U.S. at any ...

Sanger sequencing is the unsung workhorse of molecular biology, one whose value has long been undermined by the tedious nature of processing its data. Converting files of raw sequencing data into a ...

The sequencing process within NGS workflow involves a series of complex, interdependent steps -- from sample preparation and sequencing to data analysis and interpretation -- each involving highly ...

About a year ago, Matthew Kunzman’s heart was failing, despite doctors’ best attempts to bolster it with every pump and gadget they could think of. But the 14-year-old has bounced back in large part ...

A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours — a feat that’s ...

For children suffering from rare diseases, it usually takes years to receive a diagnosis. This “diagnostic odyssey” is filled with multiple referrals and a barrage of tests, seeking to uncover the ...

Next-generation sequencing (NGS) has moved away from expensive runs and complicated workflows into a new era where benchtop instruments prioritize sustainability, accessibility, accuracy, and speed.

Several ethical, analytic, and interpretive challenges associated with genomic sequencing in research and in clinical practice have been explored and described in the literature. 16 - 19 For example, ...