2023
Control-independent mosaic single nucleotide variant detection with DeepMosaic
Yang X, Xu X, Breuss M, Antaki D, Ball L, Chung C, Shen J, Li C, George R, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov L, Sebat J, Gleeson J. Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nature Biotechnology 2023, 41: 870-877. PMID: 36593400, PMCID: PMC10314968, DOI: 10.1038/s41587-022-01559-w.Peer-Reviewed Original Research
2020
Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes
Le-Rademacher J, Lopez C, Kanwar R, Major-Elechi B, Abyzov A, Banck M, Therneau T, Sloan J, Loprinzi C, Beutler A. Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes. Journal Of The Neurological Sciences 2020, 411: 116687. PMID: 32018185, PMCID: PMC7096263, DOI: 10.1016/j.jns.2020.116687.Peer-Reviewed Original ResearchConceptsChemotherapy-induced peripheral neuropathyRisk of CIPNTooth disease (CMT) genesCIPN riskCharcot-MariePatient-reported outcome instrumentsSingle nucleotide variantsFavor of casesNeurological safetyCommon genetic testsNeurotoxic chemotherapyOxaliplatin therapyPeripheral neuropathyChemotherapy decisionsClinical guidanceOutcome instrumentsUncommon variantPatientsNon-synonymous single nucleotide variantsSignificant associationOxaliplatinGenetic testsRiskCommon single nucleotide variantsCMT