Featured Publications
Mosaic Copy Number Variation in Human Neurons
McConnell MJ, Lindberg MR, Brennand KJ, Piper JC, Voet T, Cowing-Zitron C, Shumilina S, Lasken RS, Vermeesch JR, Hall IM, Gage FH. Mosaic Copy Number Variation in Human Neurons. Science 2013, 342: 632-637. PMID: 24179226, PMCID: PMC3975283, DOI: 10.1126/science.1243472.Peer-Reviewed Original ResearchConceptsCopy number variationsHiPSC-derived neuronsSingle-cell genomic approachesNumber variationsDNA copy number variationsSingle-cell sequencingHuman neuronsLarge copy number variationsStem cell linesNeural progenitor cellsNovo copy-number variationsPluripotent stem cell lineAneuploid neuronsGenomic approachesDe novo copy-number variationsSubchromosomal copy number variationsAberrant genomesFrontal cortex neuronsLarge deletionsProgenitor cellsCell linesSubset of neuronsEuploid neuronsDeletionMultiple alterations
2017
Using Cloning to Amplify Neuronal Genomes for Whole-Genome Sequencing and Comprehensive Mutation Detection and Validation
Hazen J, Duran M, Smith R, Rodriguez A, Martin G, Kupriyanov S, Hall I, Baldwin K. Using Cloning to Amplify Neuronal Genomes for Whole-Genome Sequencing and Comprehensive Mutation Detection and Validation. Neuromethods 2017, 131: 163-185. DOI: 10.1007/978-1-4939-7280-7_9.Peer-Reviewed Original ResearchNeuronal genomeSomatic cell nuclear transferEmbryonic cell lineClasses of mutationsEmbryonic stem cellsSequencing-based approachesCell nuclear transferSomatic mutationsWhole-genome sequencingNext-generation sequencingMutation detectionSomatic cellsBioinformatics methodsComprehensive mutation detectionNuclear transferIndividual mutationsGenomeCell typesStem cellsNew mutationsMutationsSingle cellsSequencingCell linesFalse positive calls