Julia Karow

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.

Overall, the organization remains skeptical of the clinical implementation of PRS testing, pointing to limitations of the tests and a lack of evidence for their clinical utility.

The researchers have already identified babies with G6PD deficiency who would have been missed by standard newborn screening.

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.

Researchers looked for pathogenic or likely pathogenic variants in 121 cancer risk genes in whole-genome sequencing data from 1,336 unselected RCC patients.

At the European Society of Human Genetics annual meeting this week, MGI customers from Sweden and Hungary reported on their experience with the sequencing platform.

Russia's invasion of its neighbor has not only caused a humanitarian catastrophe but is also threatening to undo years of bridge-building between genomics researchers in Russia, Ukraine, and the West.

The study, presented at the virtual ASHG annual meeting this week, analyzed phenotypes in carriers of different recessive Mendelian diseases.