AGBT

Startup Samplix is developing a droplet-based technique while others are turning to CRISPR/Cas9 as a way to enrich long regions of interest for sequencing.

The Fix-C method is a modified version of Hi-C and makes use of the fact that the structural information relevant in cancer is preserved in FFPE samples.

At AGBT, researchers reported on progress made in generating megabase-long reads on the MinIon, as well as initial work doing direct RNA sequencing. 

The company plans to launch a single-cell CNV assay, a single cell ATAC-seq assay, and a single-cell feature barcoding assay later this year.

At AGBT, researchers described applications for rapid pathogen ID; evaluating DNA, RNA, and gene expression in one assay; and understanding tumor heterogeneity.

Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.

Researchers for the InPSYght project are sequencing 10,000 genomes and generating linked-read data for 500 to better understand schizophrenia and bipolar disorder. 

Researchers highlighted the successes and challenges of targeted and comprehensive cancer sequencing at two recent conferences.

NanoString said its sequencing technology harnesses its expertise in optical barcodes and that it would develop it for clinical use to complement its existing products.

Researchers described using long-read sequencing technology to develop diagnostic assays, sequence through complex gene fusions, and in virology applications.