2020
Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C
Eckel-Passow J, Drucker K, Kollmeyer T, Kosel M, Decker P, Molinaro A, Rice T, Praska C, Clark L, Caron A, Abyzov A, Batzler A, Song J, Pekmezci M, Hansen H, McCoy L, Bracci P, Wiemels J, Wiencke J, Francis S, Burns T, Giannini C, Lachance D, Wrensch M, Jenkins R. Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C. Neuro-Oncology 2020, 22: 1602-1613. PMID: 32386320, PMCID: PMC7690366, DOI: 10.1093/neuonc/noaa117.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide p-value thresholdGlioma genome-wide association studiesElongation helicase 1Germline variantsChromosome 2Helicase 1Identifies variantsChromosome 7Association studiesChromosome 20Molecular subtypesMutationsGlioma molecular subtypesWild-type gliomasFAM20CDehydrogenase mutationsP-value thresholdPromoter mutationsAssociation of variantsIsocitrate dehydrogenase (IDH) mutationD2HGDHTelomerase reverse transcriptase (TERT) promoter mutationsNew regionsVariants
2017
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM, Barton A, Bekiranov S, Bohrson C, Burbulis I, Chronister W, Coppola G, Daily K, D’Gama A, Emery S, Frisbie T, Gao T, Gulyás-Kovács A, Haakenson M, Keil J, Kopera H, Lam M, Lee E, Marques-Bonet T, Mathern G, Moldovan J, Oetjens M, Omberg L, Peters M, Pochareddy S, Pramparo T, Ratan A, Sanavia T, Shi L, Skarica M, Wang J, Wang M, Wang Y, Wierman M, Wolpert M, Woodworth M, Zhao X, Zhou W. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science 2017, 356 PMID: 28450582, PMCID: PMC5558435, DOI: 10.1126/science.aal1641.Peer-Reviewed Original ResearchConceptsSomatic mutationsComplex genetic architectureStructural genomic variantsNeuronal genomeNeuronal transcriptomeGenetic architectureCell divisionCellular metabolismGenomic variantsLong life spanDNA damageComplex neuropsychiatric disorderCellular expansionNeuropsychiatric diseasesNeuropsychiatric disordersProgenitor cellsSomatic mosaicismIndividual neurodevelopmentSmall populationCell proliferationPopulation-based studyMutationsGermline variantsLife spanBrain development