2024
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes
Maury E, Jones A, Seplyarskiy V, Nguyen T, Rosenbluh C, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Zhao S, Venkatesh S, Root E, Voloudakis G, Roussos P, Network B, Park P, Akbarian S, Brennand K, Reilly S, Lee E, Sunyaev S, Walsh C, Chess A. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science 2024, 386: 217-224. PMID: 39388546, PMCID: PMC11490355, DOI: 10.1126/science.adq1456.Peer-Reviewed Original ResearchConceptsTranscription factor binding sitesWhole-genome sequencingOpen chromatinMutational processesSomatic mutationsFactor binding sitesSchizophrenia casesSchizophrenia risk genesSomatic mosaicismSomatic variantsRisk genesG mutationGene expressionGermline mutationsBinding sitesGenesMutationsIncreased somatic mutationsChromatinMosaic somatic mutationsPrenatal neurogenesisContext of schizophreniaBrain neuronsSchizophrenia brainVariants
2021
Transmission from vaccinated individuals in a large SARS-CoV-2 Delta variant outbreak
Siddle K, Krasilnikova L, Moreno G, Schaffner S, Vostok J, Fitzgerald N, Lemieux J, Barkas N, Loreth C, Specht I, Tomkins-Tinch C, Paull J, Schaeffer B, Taylor B, Loftness B, Johnson H, Schubert P, Shephard H, Doucette M, Fink T, Lang A, Baez S, Beauchamp J, Hennigan S, Buzby E, Ash S, Brown J, Clancy S, Cofsky S, Gagne L, Hall J, Harrington R, Gionet G, DeRuff K, Vodzak M, Adams G, Dobbins S, Slack S, Reilly S, Anderson L, Cipicchio M, DeFelice M, Grimsby J, Anderson S, Blumenstiel B, Meldrim J, Rooke H, Vicente G, Smith N, Messer K, Reagan F, Mandese Z, Lee M, Ray M, Fisher M, Ulcena M, Nolet C, English S, Larkin K, Vernest K, Chaluvadi S, Arvidson D, Melchiono M, Covell T, Harik V, Brock-Fisher T, Dunn M, Kearns A, Hanage W, Bernard C, Philippakis A, Lennon N, Gabriel S, Gallagher G, Smole S, Madoff L, Brown C, Park D, MacInnis B, Sabeti P. Transmission from vaccinated individuals in a large SARS-CoV-2 Delta variant outbreak. Cell 2021, 185: 485-492.e10. PMID: 35051367, PMCID: PMC8695126, DOI: 10.1016/j.cell.2021.12.027.Peer-Reviewed Original ResearchConceptsVaccinated individualsPublic health responseEpidemiological dataHealth responseComprehensive public health responseFirst large outbreakHigh vaccination ratesDelta variant outbreakOutbreak-associated casesVaccination ratesCOVID-19 casesDelta variantRobust public health responseVariant outbreakLarge outbreakMultiple settingsOutbreakIndividualsCasesInfectionOnward impactResponseSynthetic DNA spike-ins (SDSIs) enable sample tracking and detection of inter-sample contamination in SARS-CoV-2 sequencing workflows
Lagerborg KA, Normandin E, Bauer MR, Adams G, Figueroa K, Loreth C, Gladden-Young A, Shaw BM, Pearlman LR, Berenzy D, Dewey HB, Kales S, Dobbins ST, Shenoy ES, Hooper D, Pierce VM, Zachary KC, Park DJ, MacInnis BL, Tewhey R, Lemieux JE, Sabeti PC, Reilly SK, Siddle KJ. Synthetic DNA spike-ins (SDSIs) enable sample tracking and detection of inter-sample contamination in SARS-CoV-2 sequencing workflows. Nature Microbiology 2021, 7: 108-119. PMID: 34907347, PMCID: PMC8923058, DOI: 10.1038/s41564-021-01019-2.Peer-Reviewed Original Research