In recent years, the rise of next-generation sequencing (NGS) has unlocked new dimensions in variant detection. However; single nucleotide polymorphism (SNP) genotyping often remains dependent on ...

With unmatched experience sequencing more than 750,000 exomes and genomes – combined with millions of phenotypic datapoints – GeneDx has built one of the largest rare disease data sets.

A multimodal method, Perturb-Multi, enables simultaneous imaging and sequencing in intact tissue to assess how genetic perturbations affect both gene expression and cell structure.

Long-read sequencing also provides direct phasing data as well as information about methylation, a chemical process in DNA that causes genes to be “turned on or off,” and can contribute to disease.

Medical equipment maker Illumina announced on Wednesday its new series of smaller, low-cost benchtop gene sequencers, to make sequencing accessible to more research and testing labs.