News on NGS technologies, RNA-seq, clinical sequencing, & sample prep in genetics, genomics, and molecular diagnostics.
The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.
With genomic and proteomic profiles for more than 100 colon cancer cases, researchers identified drug targets, treatment resistance insights, potential cancer drivers, and more.
The method builds on a previous technique the group developed to measure transcriptomes and surface proteins from single cells.
The researchers dubbed the cell the found a "revival stem cell" and reported that slow-cycling cell type relies on YAP1 signaling to expand to repopulate the intestine.
With machine learning and clinical natural language processing, the team has come up with more automated methods to do provisional diagnoses on children with genetic disease.
