2024
Machine-guided design of cell-type-targeting cis-regulatory elements
Gosai S, Castro R, Fuentes N, Butts J, Mouri K, Alasoadura M, Kales S, Nguyen T, Noche R, Rao A, Joy M, Sabeti P, Reilly S, Tewhey R. Machine-guided design of cell-type-targeting cis-regulatory elements. Nature 2024, 634: 1211-1220. PMID: 39443793, PMCID: PMC11525185, DOI: 10.1038/s41586-024-08070-z.Peer-Reviewed Original ResearchConceptsCis-regulatory elementsCell typesActivation of off-target cellsGene expressionCell type-specific expressionSynthetic cis-regulatory elementsCell-type specificityHuman genomeUnique cell typeTissue identityBiotechnological applicationsTissue specificityIn vitro validationCell linesCre activitySequenceGenesNatural sequenceDevelopmental timeExpressionCellsGenomeTested in vivoMotifOff-target cellsSomatic 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 impactResponse