svtools: population-scale analysis of structural variation
Larson DE, Abel HJ, Chiang C, Badve A, Das I, Eldred JM, Layer RM, Hall IM. svtools: population-scale analysis of structural variation. Bioinformatics 2019, 35: 4782-4787. PMID: 31218349, PMCID: PMC6853660, DOI: 10.1093/bioinformatics/btz492.Peer-Reviewed Original ResearchSVScore: an impact prediction tool for structural variation
Ganel L, Abel HJ, , Hall IM. SVScore: an impact prediction tool for structural variation. Bioinformatics 2017, 33: 1083-1085. PMID: 28031184, PMCID: PMC5408916, DOI: 10.1093/bioinformatics/btw789.Peer-Reviewed Original ResearchMeSH KeywordsGene FrequencyGenomic Structural VariationGenomicsHumansPolymorphism, Single NucleotideSequence DeletionSoftwareMosaic 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