In clinical trials with sequential patient entry, fixed sample size designs are unjustified on ethical grounds and sequential designs are often impracticable. One solution is a group sequential design ...

PLAMseq utilizes a rapid biotinylation enzyme called TurboID, which tags nearby proteins, enabling the genomic loci and ...

This image illustrates the typical steps in next-generation sequencing (excluding single-molecule sequencing methods). The process begins with isolating genomic DNA (a) and breaking it into short ...

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 ...

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 ...