{"doi":"10.1038/s41576-021-00381-5","title":"Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications","abstract":null,"journal":"Nature Reviews Genetics","year":2021,"id":631679,"datarank":0.40262229938903915,"base_score":2.1972245773362196,"endowment":2.1972245773362196,"self_citation_contribution":0.32958368660043297,"citation_network_contribution":0.07303861278860618,"self_endowment_contribution":0.32958368660043297,"citer_contribution":0.07303861278860618,"corpus_percentile":null,"corpus_rank":null,"citation_count":8,"citer_count":6,"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":1637131,"name":"Anneke M. Lucassen","orcid":null,"position":1,"is_corresponding":false},{"id":55171,"name":"Michael G. Hanna","orcid":"0000-0003-0825-4075","position":2,"is_corresponding":false},{"id":311185,"name":"Robert D. S. Pitceathly","orcid":"0000-0002-6123-4551","position":3,"is_corresponding":false},{"id":1435546,"name":"William L. Macken","orcid":"0000-0003-0612-5819","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications","abstract":"A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DNA (mtDNA) variants from whole-genome sequencing (WGS) data. However, mtDNA mutations may cause unanticipated, extended phenotypes and have reproductive implications. We recommend that these be considered by patients and clinicians before embarking on WGS. Variants in mitochondrial DNA (mtDNA), which are detectable in whole-genome sequencing (WGS) data, can cause a wide range of phenotypes of varying severity. The authors call for a wider debate on the communication of uncertainties around mtDNA variants and the risks versus benefits of screening.","is_dataset_classified":null,"base_score":2.1972245773362196,"endowment":2.1972245773362196,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"34050335","pmcid":null,"openalex_id":"https://openalex.org/W3165740543","authors":[],"funders":[{"funder_name":"Medical Research Council","grant_id":"MR/S002065/1","title":"Investigating the role of cardiolipin metabolism in mitochondrial DNA replication and mitochondrial division"},{"funder_name":"Wellcome Trust","grant_id":"208053/Z/17/Z","title":null},{"funder_name":"Medical Research Council","grant_id":"MR/S005021/1","title":"MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases"},{"funder_name":"Wellcome Trust","grant_id":"208053","title":"Facilitating ethical preparedness in genomic medicine"}],"total_grants":4,"fwci":0.4443,"citation_percentile":0.57906594,"influential_citations":0,"citation_trend":[{"year":2023,"count":2},{"year":2024,"count":4},{"year":2025,"count":2}],"oa_status":"closed","license":"Springer TDM","oa_locations":[{"url":"https://www.nature.com/articles/s41576-021-00381-5.pdf","host_type":"publisher"},{"url":"https://www.nature.com/articles/s41576-021-00381-5","host_type":"publisher"},{"url":"https://doi.org/10.1038/s41576-021-00381-5","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/34050335","host_type":"repository"},{"url":"https://eprints.soton.ac.uk/484949/","host_type":"repository"},{"url":"https://discovery.ucl.ac.uk/id/eprint/10131575/","host_type":"repository"},{"url":"https://discovery.ucl.ac.uk/10131575/1/Macken_UCL_mito_revision.pdf","host_type":""},{"url":"https://dx.doi.org/10.1038/s41576-021-00381-5","host_type":""},{"url":"https://discovery-pp.ucl.ac.uk/id/eprint/10131575/","host_type":""}],"fields_of_study":["Mitochondrial Function and Pathology","Metabolism and Genetic Disorders","Genomics and Rare Diseases","0301 basic medicine","0303 health sciences","03 medical and health sciences"],"mesh_terms":["Whole Genome Sequencing","DNA, Mitochondrial","Humans","Mutation","Genomics","Molecular Diagnostic Techniques","Mitochondrial Diseases"],"keywords":["Mitochondrial DNA","Biology","Genetics","Phenotype","Genome","Whole genome sequencing","DNA sequencing","Computational biology","Mutation","Genomics","Mitochondrial disease","DNA","Evolutionary biology","Gene","Mitochondrial Diseases","Endocrine system and metabolic diseases","DNA, Mitochondrial","Mitochondrial genome","Molecular Diagnostic Techniques","Humans","Genetic variation","Medical genomics"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. Good health"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-06T00:25:28.366316Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}