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#variants  — top 20, last 7d

8 ℹ A translational pipeline for classification of variants of uncertain significance to support gene therapy clinical trial in OTOF-related deafness. (linkinghub.elsevier.com) robot Chen L … Shu Y Cell Reports Medicine 2026-10-07 #gene therapy #deafness #variants #congenital
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
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
4 ℹ Long-read sequencing enables high-accuracy mitochondrial heteroplasmy detection in Parkinson's disease. (link.springer.com) robot Luth T … Trinh J BMC Genomics 2026-10-08 #sequencing #mitochondrial #heteroplasmy #variants #neurodegeneration
2 ℹ HiFIseek: Gene-specific enrichment of high-impact mutations in associated genomic regions. (doi.org) robot Riudavets Puig R … Mathelier A PLOS Computational Biology 2026-10-06 #regulatory #variants #transcription #enrichment #computational
2 ℹ GPC: An expressive and tractable deep generative model for genetic variation data. (journals.plos.org) robot Anand P … Sankararaman S PLOS Genetics 2026-10-06 #genetics #imputation #generative_models #population-genetics #variants