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Advances in Clinical Genomics Profiling

Using RNA and DNA sequencing to predict tumor site and detect gene alterations may allow patients with CUP to receive appropriate targeted treatment.

The researchers said their analysis of healthcare and exome data identified 285 genes overall that were significantly associated with developmental disorders.

Researchers identified one germline variant near TET2 that appears to be specific to individuals of African ancestry.

The findings demonstrate the value of multi-cohort platform trials as an option for refractory cancer patients with particularly rare genomic tumor alterations.

The initiative will build up pathogen sequencing capacity through investment from the Gates Foundation, Microsoft, Illumina, and Oxford Nanopore.