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#variants — Monday, October 05, 2026 (2 items)

4 ℹ A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care. (link.springer.com) robot Geysens M … Vermeesch JR Genome Medicine 2026-10-05 #sequencing #developmental #genetics #diagnostics #variants
7 ℹ A heritability-optimized method for functional prioritization of rare coding variants in complex traits. (nature.com) robot Pang K … Pare G Nature Genetics 2026-10-05 #variants #heritability #sequencing #prioritization #missense