Julia Karow tracks trends in next-generation sequencing for research and clinical applications for GenomeWeb. Follow her on Twitter at @Julia_Karow.
Articles Authored by Julia Karow
ACMG: Rare Disease Patients in Poor Countries See Benefit from Clinical Whole-Genome Sequencing
Patients in Illumina's global iHope philanthropic clinical WGS program saw changes in their management regardless of whether they lived in wealthy or poor countries.
At the AMP annual meeting this week, the company outlined its technology and vision for a speedy, low-cost, high-accuracy diagnostic.
At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, researchers outlined plans from eight studies in the US, the UK, Europe, and Australia.
The public-private partnership will initially screen babies for up to about 250 rare genetic conditions, most of which are not included in standard newborn screening.
ESHG: UK Study Finds 6 Percent of Renal Cell Carcinoma Patients Carry Cancer Risk Variant
Researchers looked for pathogenic or likely pathogenic variants in 121 cancer risk genes in whole-genome sequencing data from 1,336 unselected RCC patients.
The genetic testing and health intelligence firm will start trading on the Nasdaq Global Select Market on Friday under the ticker symbols SMFR and SMFRW.
The company is also working on a new Saphyr system that will have 14 times higher throughput than the current one, which can analyze 5,000 human genomes per year.
Natera Launches Tumor Genomic Profiling Assay, Expects Reproductive Health to Break Even This Year
During a conference call, company executives also discussed results from the SMART NIPT trial and their outlook for Natera's three businesses.
German Medical Center to Report Polygenic Risk Scores as Part of Clinical Whole-Genome Testing
Under the Ge-Med project, University Hospital Tübingen will offer diagnostic whole-genome sequencing for all genetic indications and will include PRS in its reporting.
The RT-LAMP-based platform, which the researchers plan to commercialize through a spinout company, could be adapted for other infectious disease tests.