Sequencing: Page 2

Structural protein variants detected through nanopore technology

According to the team, the new protein characterization method could be readily integrated into existing portable nanopore sequencing devices to help rapidly build protein inventories of single cells and tissues.

August 21, 2023

GeninCode files pre-market notification with FDA for cardiovascular risk assessment test

The filing is part of GeninCode’s effort to expand its U.S. commercial distribution of CIC-SCORE; the company filed its pre-submission for GeninCode with the FDA last year.

August 18, 2023

Single-cell sequencing shows population-level drivers of COVID-19 responses

To assess population-level variation, the researchers performed single-cell RNA sequencing on peripheral blood mononuclear cells taken from 222 healthy donors of diverse ancestries.

August 15, 2023

Illumina releases Q2 results, adjusts 2023 guidance

Illumina is lowering its 2023 guidance for total revenue and EPS. The firm now anticipates consolidated revenue growth of approximately 1% year over year, with core Illumina revenues flat for the period.

August 14, 2023

PacBio, GeneDx team up to test if long-read sequencing improves pediatric diagnoses

In the study, GeneDx, a genetic testing company, will use PacBio’s Revio sequencing system to perform WGS and analysis of samples from 350 people and their biological parents.

August 10, 2023

Oxford Nanopore forms German rare disease sequencing research collaboration

The two-year pilot study will assess the benefits and feasibility of incorporating nanopore-based genome sequencing in German clinical practice.

August 4, 2023

Revvity launches automated workstation at AACC 2023 annual meeting

The workstation is a next-generation liquid handler that integrates technologies from Revvity’s existing platforms, designed to streamline workflows in next generation sequencing (NGS) and diagnostic research applications.

July 28, 2023

Illumina inks deal to sell Pillar Biosciences’ cancer assays

Pillar, which has partnerships with Beckman Coulter Life Sciences and Labcorp, designed its NSCLC and CRC panel to run on the Illumina MiSeq Dx instrument. The instrument is a next-generation sequencing (NGS) platform for in vitro diagnostic testing.

July 26, 2023

NIH’s $140M investigation of genetic variation could unlock a ‘new universe of variants’

Through SMaHT, the NIH aims to catalog the breadth of somatic mosaicism in human tissues.

July 25, 2023

Thermo Fisher launches first reproductive health assays on Ion Torrent sequencer

The products, the Ion ReproSeq PGT-A Kit and the Ion AmpliSeq Polyploidy Kit, are the first reproductive health assays available for the company’s Ion Torrent Genexus Integrated Sequencer.

July 21, 2023

Molecular pathology bodies recommend expansion of pharmacogenomic test panels

In its latest project, the working group investigated clinical CYP3A4 and CYP3A5 PGx testing, leading the AMP and its collaborators to issue consensus recommendations on the genes.

July 18, 2023

Whole genome sequencing finds genetic disorders missed by targeted test in babies

WGS found a genetic disorder in 49% of the patients, compared to a 27% detection rate for NewbornDx. Overall, a molecular diagnostic variant was found in 51% of participants; 134 of the 297 identified variants were novel.

July 14, 2023

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