2020
Complex mosaic structural variations in human fetal brains
Sekar S, Tomasini L, Proukakis C, Bae T, Manlove L, Jang Y, Scuderi S, Zhou B, Kalyva M, Amiri A, Mariani J, Sedlazeck F, Urban AE, Vaccarino F, Abyzov A. Complex mosaic structural variations in human fetal brains. Genome Research 2020, 30: gr.262667.120. PMID: 33122304, PMCID: PMC7706730, DOI: 10.1101/gr.262667.120.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsCopy number variantsStructural variantsMegabase-scale copy number variantsHuman fetal brainFunctional consequencesMobile element insertionsSimilar functional consequencesFetal brainMosaic single-nucleotide variantsAdult brain neuronsStructural variationsPotential functional consequencesKilobase scaleDNA eventsGenomic fragmentDifferent chromosomesElement insertionsClonal approachHuman brain cellsFetal human brainNucleotide variantsReplication errorsHuman brainNumber variantsThe role of somatic mosaicism in brain disease
Jourdon A, Fasching L, Scuderi S, Abyzov A, Vaccarino FM. The role of somatic mosaicism in brain disease. Current Opinion In Genetics & Development 2020, 65: 84-90. PMID: 32622340, PMCID: PMC7749073, DOI: 10.1016/j.gde.2020.05.002.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
2007
Structure SNP (StSNP): a web server for mapping and modeling nsSNPs on protein structures with linkage to metabolic pathways
Uzun A, Leslin C, Abyzov A, Ilyin V. Structure SNP (StSNP): a web server for mapping and modeling nsSNPs on protein structures with linkage to metabolic pathways. Nucleic Acids Research 2007, 35: w384-w392. PMID: 17537826, PMCID: PMC1933130, DOI: 10.1093/nar/gkm232.Peer-Reviewed Original ResearchConceptsMetabolic pathwaysSNP databasePathway informationProtein structureMulti-protein complexesOpen reading frameAmino acid sequenceMetabolic pathway informationDisease-related pathwaysNCBI SNP databaseProtein databaseReading frameMolecular basisAcid sequencePathway relationsNsSNPsFunctional consequencesComparative modelingProteinEdu/PathwayGenesWeb serverSNPsStructure data