{"doi":"10.1016/j.jare.2023.01.021","title":"North and East African mitochondrial genetic variation needs further characterization towards precision medicine","abstract":null,"journal":"Journal of Advanced Research","year":2023,"id":612037,"datarank":0.3613861606252919,"base_score":1.791759469228055,"endowment":1.791759469228055,"self_citation_contribution":0.26876392038420827,"citation_network_contribution":0.09262224024108363,"self_endowment_contribution":0.26876392038420827,"citer_contribution":0.09262224024108363,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":5,"citers_with_citation_signal":4,"citers_with_endowment":4,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1575640,"name":"Isabel Stephan","orcid":null,"position":1,"is_corresponding":false},{"id":577307,"name":"Misa Hirose","orcid":"0000-0002-8909-4693","position":2,"is_corresponding":false},{"id":1575641,"name":"Franziska Haarich","orcid":null,"position":3,"is_corresponding":false},{"id":1575642,"name":"Mosab Ali Awadelkareem","orcid":null,"position":4,"is_corresponding":false},{"id":577310,"name":"Saleh Ibrahim","orcid":"0000-0001-7827-2290","position":5,"is_corresponding":false},{"id":5619,"name":"Hauke Busch","orcid":"0000-0003-4763-4521","position":6,"is_corresponding":false},{"id":7723,"name":"Inken Wohlers","orcid":"0000-0003-4004-0464","position":7,"is_corresponding":false},{"id":1150628,"name":"Anke Fähnrich","orcid":"0000-0003-1904-9544","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"North and East African mitochondrial genetic variation needs further characterization towards precision medicine","abstract":"INTRODUCTION: Mitochondria are maternally inherited cell organelles with their own genome, and perform various functions in eukaryotic cells such as energy production and cellular homeostasis. Due to their inheritance and manifold biological roles in health and disease, mitochondrial genetics serves a dual purpose of tracing the history as well as disease susceptibility of human populations across the globe. This work requires a comprehensive catalogue of commonly observed genetic variations in the mitochondrial DNAs for all regions throughout the world. So far, however, certain regions, such as North and East Africa have been understudied. OBJECTIVES: To address this shortcoming, we have created the most comprehensive quality-controlled North and East African mitochondrial data set to date and use it for characterizing mitochondrial genetic variation in this region. METHODS: We compiled 11 published cohorts with novel data for mitochondrial genomes from 159 Sudanese individuals. We combined these 641 mitochondrial sequences with sequences from the 1000 Genomes (n = 2504) and the Human Genome Diversity Project (n = 828) and used the tool haplocheck for extensive quality control and detection of in-sample contamination, as well as Nanopore long read sequencing for haplogroup validation of 18 samples. RESULTS: Using a subset of high-coverage mitochondrial sequences, we predict 15 potentially novel haplogroups in North and East African subjects and observe likely phylogenetic deviations from the established PhyloTree reference for haplogroups L0a1 and L2a1. CONCLUSION: Our findings demonstrate common hitherto unexplored variants in mitochondrial genomes of North and East Africa that lead to novel phylogenetic relationships between haplogroups present in these regions. These observations call for further in-depth population genetic studies in that region to enable the prospective use of mitochondrial genetic variation for precision medicine.","is_dataset_classified":null,"base_score":1.791759469228055,"endowment":1.791759469228055,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"36736695","pmcid":"PMC10703728","openalex_id":"https://openalex.org/W4319001027","authors":[],"funders":[{"funder_name":"Deutsche Forschungsgemeinschaft","grant_id":"EXC 22167-390884018","title":null},{"funder_name":"Deutsche Forschungsgemeinschaft","grant_id":"unidentified","title":"unidentified"},{"funder_name":"Universität zu Lübeck","grant_id":"","title":null}],"total_grants":3,"fwci":0.464,"citation_percentile":0.56480157,"influential_citations":0,"citation_trend":[{"year":2024,"count":2},{"year":2025,"count":2},{"year":2026,"count":1}],"oa_status":"gold","license":"cc-by-nc-nd","oa_locations":[{"url":"https://doi.org/10.1016/j.jare.2023.01.021","host_type":"journal"},{"url":"https://doi.org/10.1016/j.jare.2023.01.021","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S2090123223000346?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S2090123223000346?httpAccept=text/plain","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/36736695","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10703728","host_type":"repository"},{"url":"https://doaj.org/article/a9a3c9b1cd72481da7351e99eced0757","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10703728/pdf/main.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC10703728","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC10703728?pdf=render","host_type":"Europe_PMC"},{"url":"https://doi.org/10.1101/2021.12.10.472079","host_type":""},{"url":"https://www.biorxiv.org/content/biorxiv/early/2021/12/10/2021.12.10.472079.full.pdf","host_type":""},{"url":"http://dx.doi.org/10.1016/j.jare.2023.01.021","host_type":""}],"fields_of_study":["Mitochondrial Function and Pathology","Forensic and Genetic Research","Genomics and Phylogenetic Studies","0301 basic medicine","03 medical and health sciences","Humans","DNA, Mitochondrial","East African People","Genetic Variation","Haplotypes","Phylogeny","Precision Medicine","Sequence Analysis, DNA","North African People"],"mesh_terms":["North African People","East African People","DNA, Mitochondrial","Haplotypes","Humans","Phylogeny","Genetic Variation","Sequence Analysis, DNA","Precision Medicine"],"keywords":["Haplogroup","Mitochondrial DNA","Genome","Biology","Evolutionary biology","Genetics","Genetic variation","Phylogenetic tree","Genomics","Computational biology","Haplotype","Gene","Allele","mtDNA","Energetics","phylogenetics","Next-generation Sequencing","Haplogroups","Long-read Sequencing","Medicine (General)","Science (General)","North African People","Sequence Analysis, DNA","East African People","DNA, Mitochondrial","Q1-390","R5-920","Haplotypes","Humans","Original Article","Precision Medicine","Phylogeny"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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