RNA sequencing platform unlocks rare disease diagnoses missed by standard tests

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare ...
Nature

Next-generation sequencing in the clinic: are we ready?

Leslie G. Biesecker. Genomic test data (clinical genomes and exomes) are stupendously complex but so are a number of other complex medical tests. So, genomics is not different solely because of this ...

Stanford Converts Proteins Into DNA In Breakthrough Sequencing Leap

Stanford develops protein-to-DNA method enabling high-throughput protein sequencing Technique detects up to 1,000 times more ...