In this interview conducted at Pittcon 2023 in Philadelphia, Pennsylvania, we spoke to this year's recipient of the Pittsburgh Analytical Chemistry Award, Neil Kelleher, about his work in top-down ...

Methods with single cell resolution can address this issue and through simultaneous measurements of genotype and phenotype cause and effect can be linked. In my talk I present DAb-seq, our new droplet ...

Genotype "AC" is all about your blood and how it carries oxygen around your body. The "A" part is the normal type of haemoglobin, which does the job just fine. The "C" part is a bit different—it ...

Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...

Genotype-phenotype analyses showed that missense/in-frame mutations were more likely to be hereditary compared with severe deleterious mutation types (100% v 27%; P = .004). In addition, heat map ...

The study reported in the Open Forum of Infectious Diseases is based on data contained within the Innovative Support For Patients with SARS-Co-V-2 Infectious Registry (INSPIRE), containing patient ...

In a Healio exclusive, Andres J. Acosta, MD, PhD, highlights data demonstrating that the MyPhenome test may serve as a biomarker to determine whether a patient with obesity will be a “good ...