{"data":{"id":"10.6084/m9.figshare.c.2111222","type":"dois","attributes":{"doi":"10.6084/m9.figshare.c.2111222","prefix":"10.6084","suffix":"m9.figshare.c.2111222","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Yang, Haixin","givenName":"Haixin","familyName":"Yang","affiliation":[],"nameIdentifiers":[]},{"name":"Liu, Rui","givenName":"Rui","familyName":"Liu","affiliation":[],"nameIdentifiers":[]},{"name":"Wang, Chuan-Chao","givenName":"Chuan-Chao","familyName":"Wang","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Searching the co-occurrence of pathogenic mutations for Leber’s hereditary optic neuropathy and hearing loss in more than 26,000 whole mitochondrial genomes"}],"publisher":"Taylor \u0026 Francis","container":{},"publicationYear":2015,"subjects":[{"subject":"Space Science"},{"subject":"Medicine"},{"subject":"Genetics"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Pharmacology"},{"subject":"Biotechnology"},{"subject":"Evolutionary Biology"},{"subject":"Environmental Sciences not elsewhere classified"},{"subject":"Biological Sciences not elsewhere classified"},{"subject":"Cancer"},{"subject":"Hematology"},{"subject":"Infectious Diseases"},{"subject":"FOS: Health sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Computational Biology"}],"contributors":[],"dates":[{"date":"2015-12-05","dateType":"Created"},{"date":"2019-08-19","dateType":"Updated"},{"date":"2015","dateType":"Issued"}],"language":null,"types":{"ris":"GEN","bibtex":"misc","citeproc":"article","schemaOrg":"Collection","resourceType":"Collection","resourceTypeGeneral":"Collection"},"relatedIdentifiers":[],"relatedItems":[],"sizes":[],"formats":[],"version":null,"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 co-occurrence of pathogenic or candidate mutations for Leber’s hereditary optic neuropathy (LHON) and hearing loss has long been suggested to be a rare incident. The “rare” is probably caused by inadequate database searches. In this study, we created and released a comprehensive database with detailed information of haplogroup, variants, coding sites, and potential pathogenic mutations for more than 26,000 whole mitochondrial genomes. We found the co-occurrence in more than 200 individuals including not only LHON or hearing loss patients but also individuals sampled from general populations with various haplogroup backgrounds. The results highlighted the significant importance of adequate database searching in the genetic analysis of mitochondrial disorders.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"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","url":"https://tandf.figshare.com/collections/Searching_the_co_occurrence_of_pathogenic_mutations_for_Leber_s_hereditary_optic_neuropathy_and_hearing_loss_in_more_than_26_000_whole_mitochondrial_genomes/2111222","contentUrl":null,"metadataVersion":3,"schemaVersion":"http://datacite.org/schema/kernel-4","source":"mds","isActive":true,"state":"findable","reason":null,"viewCount":0,"viewsOverTime":[],"downloadCount":0,"downloadsOverTime":[],"referenceCount":0,"citationCount":0,"citationsOverTime":[],"partCount":0,"partOfCount":0,"versionCount":0,"versionOfCount":0,"created":"2015-12-05T18:16:05.000Z","registered":"2015-12-05T18:16:06.000Z","published":"2015","updated":"2024-03-21T09:21:36.000Z"},"relationships":{"client":{"data":{"id":"figshare.ars","type":"clients"}},"provider":{"data":{"id":"otjm","type":"providers"}},"media":{"data":{"id":"10.6084/m9.figshare.c.2111222","type":"media"}},"references":{"data":[]},"citations":{"data":[]},"parts":{"data":[]},"partOf":{"data":[]},"versions":{"data":[]},"versionOf":{"data":[]}}}}