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 ...
Every sequencing platform converts a biological molecule into a signal, but each chooses a different physical phenomenon to measure. Sequencing by synthesis (SBS) captures fluorescence at the moment ...
Short-read sequencing built the modern genomics era. Illumina platforms, generating millions of short DNA fragments in parallel, became the workhorse of most laboratories from the late 2000s onward.