{"data":[{"id":"10.5062/f4n58jnw","type":"dois","attributes":{"doi":"10.5062/f4n58jnw","identifiers":[],"creators":[{"name":"Acosta Uribe, Juliana","nameType":"Personal","givenName":"Juliana","familyName":"Acosta Uribe","affiliation":[],"nameIdentifiers":[]},{"name":"Aguillón Niño, David Fernando","nameType":"Personal","givenName":"David Fernando","familyName":"Aguillón Niño","affiliation":[],"nameIdentifiers":[]},{"name":"Cochran, Jesse Nicholas","nameType":"Personal","givenName":"Jesse Nicholas","familyName":"Cochran","affiliation":[],"nameIdentifiers":[]},{"name":"Kosik, Kenneth Stephen","nameType":"Personal","givenName":"Kenneth Stephen","familyName":"Kosik","affiliation":[],"nameIdentifiers":[]},{"name":"Lopera Restrepo, Francisco Javier","nameType":"Personal","givenName":"Francisco Javier","familyName":"Lopera Restrepo","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"The Admixture and Neurodegeneration Genetic Landscape (TANGL)"}],"publisher":"Universidad de Antioquia. Facultad de Medicina. Grupo de Neurociencias de Antioquia","container":{},"publicationYear":2022,"subjects":[{"subject":"Next Generation Sequencing"},{"subject":"Alzheimers disease"},{"subject":"Neurodegenerative Diseases"},{"subject":"Admixture"},{"subject":"Genomic Medicine"},{"subject":"Bioinformatics"},{"subject":"FOS: Computer and information sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"}],"contributors":[],"dates":[{"date":"2022","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[],"relatedItems":[],"sizes":[],"formats":[],"version":null,"rightsList":[],"descriptions":[{"description":"Background: The Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native Americans, Spanish invaders and enslaved Africans, all of whom passed through a population bottleneck due to widespread infectious diseases that left small isolated local settlements. As a result, the current population reflects multiple founder effects derived from diverse ancestries. Methods: We characterized the role of admixture and founder effects on the origination of the mutational landscape that led to neurodegenerative disorders under these historical circumstances. Genomes from 900 Colombian individuals with Alzheimer’s disease (AD) [n=376], Frontotemporal lobar degeneration-motor neuron disease continuum (FTLD-MND)[n=197], Early Onset Dementia not otherwise specified (EOD) [n=73] and healthy participants [n=254] were analyzed. We examined their global and local ancestry proportions and screened this cohort for deleterious variants in disease-causing and risk-conferring genes. Results: We identified 21 pathogenic variants in AD-FTLD related genes, and PSEN1 harbored the majority (11 pathogenic variants). Variants were identified from all three continental ancestries. TREM2 heterozygous and homozygous variants were the most common among AD risk genes (102 carriers), a point of interest because the disease risk conferred by these variants differed according to ancestry. Several gene variants that have a known association with MND in European populations had FTLD phenotypes on a Native American haplotype. Consistent with founder effects, identity by descent among carriers of the same variant was frequent. Conclusions: Colombian demography with multiple mini-bottlenecks probably enhanced the detection of founder events and left a proportionally higher frequency of rare variants derived from the ancestral populations. These findings demonstrate the role of genomically-defined ancestry in phenotypic disease expression, a phenotypic range of different rare mutations in the same gene, and further emphasize the importance of inclusiveness in genetic studies.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"url":"https://bibliotecadigital.udea.edu.co/entities/publication/ee39052b-af82-41e1-a9fe-360f4ca5210e","contentUrl":null,"metadataVersion":0,"schemaVersion":"http://datacite.org/schema/kernel-4","source":"mds","isActive":true,"state":"findable","reason":null,"viewCount":0,"downloadCount":0,"referenceCount":0,"citationCount":0,"partCount":0,"partOfCount":0,"versionCount":0,"versionOfCount":0,"created":"2022-02-01T17:40:53Z","registered":"2022-02-01T17:40:54Z","published":null,"updated":"2025-12-10T16:52:30Z"},"relationships":{"client":{"data":{"id":"cdl.ucsb","type":"clients"}}}},{"id":"10.5062/f4pn93k4","type":"dois","attributes":{"doi":"10.5062/f4pn93k4","identifiers":[],"creators":[{"name":"Janée, Greg","nameType":"Personal","givenName":"Greg","familyName":"Janée","affiliation":[],"nameIdentifiers":[]},{"name":"Frew, James","nameType":"Personal","givenName":"James","familyName":"Frew","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Faculty/Researcher Survey on Data Curation"}],"publisher":"UCSB Library","container":{},"publicationYear":2013,"subjects":[{"subject":"digital curation"}],"contributors":[],"dates":[{"date":"2013-10-15","dateType":"Created"},{"date":"2013","dateType":"Issued"}],"language":null,"types":{"ris":"RPRT","bibtex":"article","citeproc":"article-journal","schemaOrg":"ScholarlyArticle","resourceType":"Text","resourceTypeGeneral":"Text"},"relatedIdentifiers":[],"relatedItems":[],"sizes":[],"formats":[],"version":null,"rightsList":[],"descriptions":[{"description":"In 2012 the Data Curation @ UCSB Project surveyed UCSB campus faculty and researchers on the subject of data curation, with the goals of 1) better understanding the scope of the digital curation problem and the curation services that are needed, and 2) characterizing the role that the UCSB Library might play in supporting curation of campus research outputs. The project received responses from one-third of the estimated target audience of 900, indicating great interest in the topic and yielding statistically significant results. The findings argue for the establishment of a campus unit possessing data curation expertise and providing curation-related assistance to campus researchers, and possibly hosting curation services (as necessary and as funding allows).","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"url":"https://gjanee.github.io/2012-data-curation-survey/","contentUrl":null,"metadataVersion":4,"schemaVersion":"http://datacite.org/schema/kernel-4","source":"mds","isActive":true,"state":"findable","reason":null,"viewCount":0,"downloadCount":0,"referenceCount":0,"citationCount":0,"partCount":0,"partOfCount":0,"versionCount":0,"versionOfCount":0,"created":"2013-10-16T23:06:30Z","registered":"2013-10-16T23:06:31Z","published":null,"updated":"2025-11-14T17:54:10Z"},"relationships":{"client":{"data":{"id":"cdl.ucsb","type":"clients"}}}},{"id":"10.5062/f4br8qfb","type":"dois","attributes":{"doi":"10.5062/f4br8qfb","identifiers":[],"creators":[{"name":"Acosta Uribe, Juliana","nameType":"Personal","givenName":"Juliana","familyName":"Acosta Uribe","affiliation":[],"nameIdentifiers":[{"schemeUri":"https://orcid.org","nameIdentifier":"https://orcid.org/0000-0001-9978-093X","nameIdentifierScheme":"ORCID"}]},{"name":"Lu, Dylan","nameType":"Personal","givenName":"Dylan","familyName":"Lu","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Genomic Variant Visualizer"}],"publisher":"University of California Santa Barbara and Tau Bioinformatics","container":{},"publicationYear":2025,"subjects":[{"subject":"Genetic diversity"},{"subject":"Genomic variation"},{"subject":"Cohort visualization"},{"subject":"Neurodegeneration"}],"contributors":[{"name":"Kosik, Kenneth S","nameType":"Personal","givenName":"Kenneth S","familyName":"Kosik","affiliation":[],"contributorType":"Other","nameIdentifiers":[]}],"dates":[{"date":"2025","dateType":"Issued"}],"language":null,"types":{"ris":"GEN","bibtex":"misc","citeproc":"article","schemaOrg":"CreativeWork","resourceType":"Interactive Dash Application","resourceTypeGeneral":"InteractiveResource"},"relatedIdentifiers":[],"relatedItems":[],"sizes":[],"formats":[],"version":"1.0","rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"The Variant Visualizer is an interactive application developed to support the exploration of genomic variants within the TANGL and ReDLat cohorts. These cohorts comprise Latin American individuals, including both patients affected by neurodegenerative disorders and cognitively healthy controls. The tool enables users to dynamically examine and compare genetic variation across participants with different clinical diagnoses, such as Alzheimer's disease, frontotemporal dementia, and healthy aging. This facilitates deeper insights into the genetic architecture of neurodegeneration in diverse populations.","descriptionType":"Other"}],"geoLocations":[],"fundingReferences":[],"url":"http://kosik.cnsi.ucsb.edu:8050/","contentUrl":null,"metadataVersion":1,"schemaVersion":"http://datacite.org/schema/kernel-4","source":"mds","isActive":true,"state":"findable","reason":null,"viewCount":0,"downloadCount":0,"referenceCount":0,"citationCount":0,"partCount":0,"partOfCount":0,"versionCount":0,"versionOfCount":0,"created":"2025-06-17T22:00:02Z","registered":"2025-06-17T22:00:03Z","published":null,"updated":"2025-06-17T22:54:58Z"},"relationships":{"client":{"data":{"id":"cdl.ucsb","type":"clients"}}}},{"id":"10.5062/f4mw2f2p","type":"dois","attributes":{"doi":"10.5062/f4mw2f2p","identifiers":[],"creators":[{"name":"Choinski, Buffy","nameType":"Personal","givenName":"Buffy","familyName":"Choinski","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Thoughts on Refereed 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