{"id":"https://openalex.org/W2034772582","doi":"https://doi.org/10.1186/1471-2105-10-s8-s7","title":"MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease","display_name":"MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease","publication_year":2009,"publication_date":"2009-08-01","ids":{"openalex":"https://openalex.org/W2034772582","doi":"https://doi.org/10.1186/1471-2105-10-s8-s7","mag":"2034772582","pmid":"https://pubmed.ncbi.nlm.nih.gov/19758471"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2105-10-s8-s7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-10-s8-s7","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-10-S8-S7","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-10-S8-S7","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5040857304","display_name":"Anshu Bhardwaj","orcid":"https://orcid.org/0000-0001-5830-2616"},"institutions":[{"id":"https://openalex.org/I177828482","display_name":"Institute of Genomics and Integrative Biology","ror":"https://ror.org/05ef28661","country_code":"IN","type":"facility","lineage":["https://openalex.org/I177828482","https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Anshu Bhardwaj","raw_affiliation_strings":["Institute of Genomics and Integrative Biology, CSIR, Delhi, India. anshu@igib.res.in","Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomics and Integrative Biology, CSIR, Delhi, India. anshu@igib.res.in","institution_ids":["https://openalex.org/I177828482"]},{"raw_affiliation_string":"Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Delhi, India","institution_ids":["https://openalex.org/I177828482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054002616","display_name":"Mitali Mukerji","orcid":"https://orcid.org/0000-0003-0697-5055"},"institutions":[{"id":"https://openalex.org/I177828482","display_name":"Institute of Genomics and Integrative Biology","ror":"https://ror.org/05ef28661","country_code":"IN","type":"facility","lineage":["https://openalex.org/I177828482","https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Mitali Mukerji","raw_affiliation_strings":["Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Mall Road, Delhi, 110007, India","Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Mall Road, Delhi, 110007, India","institution_ids":["https://openalex.org/I177828482"]},{"raw_affiliation_string":"Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Delhi, India","institution_ids":["https://openalex.org/I177828482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102740494","display_name":"Shipra Sharma","orcid":"https://orcid.org/0000-0002-6106-1398"},"institutions":[{"id":"https://openalex.org/I177828482","display_name":"Institute of Genomics and Integrative Biology","ror":"https://ror.org/05ef28661","country_code":"IN","type":"facility","lineage":["https://openalex.org/I177828482","https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Shipra Sharma","raw_affiliation_strings":["Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Mall Road, Delhi, 110007, India","Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Mall Road, Delhi, 110007, India","institution_ids":["https://openalex.org/I177828482"]},{"raw_affiliation_string":"Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Delhi, India","institution_ids":["https://openalex.org/I177828482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084976151","display_name":"Jinny Paul","orcid":"https://orcid.org/0000-0002-6863-6406"},"institutions":[{"id":"https://openalex.org/I177828482","display_name":"Institute of Genomics and Integrative Biology","ror":"https://ror.org/05ef28661","country_code":"IN","type":"facility","lineage":["https://openalex.org/I177828482","https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Jinny Paul","raw_affiliation_strings":["Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Mall Road, Delhi, 110007, India","Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Mall Road, Delhi, 110007, India","institution_ids":["https://openalex.org/I177828482"]},{"raw_affiliation_string":"Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, CSIR, Delhi, India","institution_ids":["https://openalex.org/I177828482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044240924","display_name":"Chaitanya S. Gokhale","orcid":"https://orcid.org/0000-0002-5749-3665"},"institutions":[{"id":"https://openalex.org/I4210152351","display_name":"Max Planck Institute for Evolutionary Biology","ror":"https://ror.org/0534re684","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210152351"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Chaitanya S Gokhale","raw_affiliation_strings":["Max Planck Institute for Evolutionary Biology, August-Thienemann-Str. 2, 24306, Pl\u00f6n, Germany","Max Planck Institute for Evolutionary Biology; Pl\u00f6n Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Max Planck Institute for Evolutionary Biology, August-Thienemann-Str. 2, 24306, Pl\u00f6n, Germany","institution_ids":["https://openalex.org/I4210152351"]},{"raw_affiliation_string":"Max Planck Institute for Evolutionary Biology; Pl\u00f6n Germany","institution_ids":["https://openalex.org/I4210152351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033236430","display_name":"Achal Kumar Srivastava","orcid":"https://orcid.org/0000-0002-4590-7947"},"institutions":[{"id":"https://openalex.org/I63739035","display_name":"All India Institute of Medical Sciences","ror":"https://ror.org/02dwcqs71","country_code":"IN","type":"education","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210148677","https://openalex.org/I63739035"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Achal K Srivastava","raw_affiliation_strings":["Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, 110029, India","Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, 110029, India","institution_ids":["https://openalex.org/I63739035"]},{"raw_affiliation_string":"Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India","institution_ids":["https://openalex.org/I63739035"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024146313","display_name":"Shrish Tiwari","orcid":"https://orcid.org/0000-0003-2020-1830"},"institutions":[{"id":"https://openalex.org/I185638415","display_name":"Centre for Cellular and Molecular Biology","ror":"https://ror.org/05shq4n12","country_code":"IN","type":"facility","lineage":["https://openalex.org/I185638415","https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Shrish Tiwari","raw_affiliation_strings":["Bioinformatics Division, Centre for Cellular and Molecular Biology, CSIR, Uppal Road, Hyderabad, 500007, India","Bioinformatics Division, Centre for Cellular and Molecular Biology, CSIR, Hyderabad, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Division, Centre for Cellular and Molecular Biology, CSIR, Uppal Road, Hyderabad, 500007, India","institution_ids":["https://openalex.org/I185638415"]},{"raw_affiliation_string":"Bioinformatics Division, Centre for Cellular and Molecular Biology, CSIR, Hyderabad, India","institution_ids":["https://openalex.org/I185638415"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5024146313","https://openalex.org/A5040857304"],"corresponding_institution_ids":["https://openalex.org/I177828482","https://openalex.org/I185638415"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":1.0072,"has_fulltext":true,"cited_by_count":25,"citation_normalized_percentile":{"value":0.74160659,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"10","issue":"S8","first_page":"S7","last_page":"S7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9922000169754028,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9922000169754028,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11626","display_name":"Metalloenzymes and iron-sulfur proteins","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2105","display_name":"Renewable Energy, Sustainability and the Environment"},"field":{"id":"https://openalex.org/fields/21","display_name":"Energy"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.6058220267295837},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia","display_name":"Spinocerebellar ataxia","score":0.5909281373023987},{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"Mitochondrial DNA","score":0.5615499019622803},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5354976654052734},{"id":"https://openalex.org/keywords/ataxia","display_name":"Ataxia","score":0.5278261303901672},{"id":"https://openalex.org/keywords/pathogenicity","display_name":"Pathogenicity","score":0.4848412275314331},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.44335493445396423},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"Mitochondrial disease","score":0.41641953587532043},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.3881835341453552},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3476199507713318},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.28246361017227173},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.14520421624183655},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.10358422994613647},{"id":"https://openalex.org/keywords/neuroscience","display_name":"Neuroscience","score":0.08844694495201111}],"concepts":[{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6058220267295837},{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.5909281373023987},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.5615499019622803},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5354976654052734},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5278261303901672},{"id":"https://openalex.org/C64502627","wikidata":"https://www.wikidata.org/wiki/Q170065","display_name":"Pathogenicity","level":2,"score":0.4848412275314331},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44335493445396423},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.41641953587532043},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3881835341453552},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3476199507713318},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.28246361017227173},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.14520421624183655},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10358422994613647},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.08844694495201111},{"id":"https://openalex.org/C89423630","wikidata":"https://www.wikidata.org/wiki/Q7193","display_name":"Microbiology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001259","descriptor_name":"Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001259","descriptor_name":"Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001259","descriptor_name":"Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009765","descriptor_name":"Obesity","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009765","descriptor_name":"Obesity","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009765","descriptor_name":"Obesity","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011237","descriptor_name":"Predictive Value of Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011237","descriptor_name":"Predictive Value of Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011237","descriptor_name":"Predictive Value of Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050259","descriptor_name":"Genes, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D050259","descriptor_name":"Genes, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D050259","descriptor_name":"Genes, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1186/1471-2105-10-s8-s7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-10-s8-s7","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-10-S8-S7","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:19758471","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19758471","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:2745589","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2745589","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Text"},{"id":"pmh:oai:edoc.mpg.de:435271","is_oa":false,"landing_page_url":"http://edoc.mpg.de/435271","pdf_url":null,"source":{"id":"https://openalex.org/S4406922265","display_name":"Max Planck Institute for Plasma Physics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, v.10, Suppl. 8 (2009)","raw_type":"Conference-Paper"},{"id":"pmh:oai:pure.mpg.de:item_1505317","is_oa":true,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-000F-D577-E","pdf_url":null,"source":{"id":"https://openalex.org/S4306400654","display_name":"MPG.PuRe (Max Planck Society)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1186/1471-2105-10-s8-s7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-10-s8-s7","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-10-S8-S7","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.4300000071525574,"display_name":"Good health and well-being"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320721","display_name":"Council of Scientific and Industrial Research, India","ror":"https://ror.org/021wm7p51"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2034772582.pdf","grobid_xml":"https://content.openalex.org/works/W2034772582.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1582021639","https://openalex.org/W1966691625","https://openalex.org/W1966828661","https://openalex.org/W1973211255","https://openalex.org/W1979465918","https://openalex.org/W1981789085","https://openalex.org/W1990472235","https://openalex.org/W1993401855","https://openalex.org/W1998826666","https://openalex.org/W2003574027","https://openalex.org/W2009041545","https://openalex.org/W2009103469","https://openalex.org/W2012636308","https://openalex.org/W2018448923","https://openalex.org/W2026593599","https://openalex.org/W2027729627","https://openalex.org/W2029548280","https://openalex.org/W2034429340","https://openalex.org/W2036074567","https://openalex.org/W2042120426","https://openalex.org/W2044494908","https://openalex.org/W2047305198","https://openalex.org/W2070384973","https://openalex.org/W2099564671","https://openalex.org/W2105754268","https://openalex.org/W2108507806","https://openalex.org/W2109372707","https://openalex.org/W2111896683","https://openalex.org/W2112062799","https://openalex.org/W2118405717","https://openalex.org/W2118678422","https://openalex.org/W2119657969","https://openalex.org/W2137341257","https://openalex.org/W2141481588","https://openalex.org/W2164277750","https://openalex.org/W2164511303","https://openalex.org/W2301423429","https://openalex.org/W2628074563","https://openalex.org/W4248546608"],"related_works":["https://openalex.org/W157350188","https://openalex.org/W2161777075","https://openalex.org/W2944773024","https://openalex.org/W2113317195","https://openalex.org/W2163378098","https://openalex.org/W2948207114","https://openalex.org/W3023635940","https://openalex.org/W1608072655","https://openalex.org/W2311314060","https://openalex.org/W2034772582"],"abstract_inverted_index":{"BACKGROUND:":[0],"Human":[1],"mitochondrial":[2,136,181,283],"DNA":[3,182],"(mtDNA)":[4],"variations":[5,19,26,48,227,302,318],"have":[6,34,273],"been":[7,107,115],"implicated":[8],"in":[9,27,67,74,81,109,124,228,234,247,269,288],"a":[10,30,38,186,275,310],"broad":[11],"spectrum":[12],"of":[13,25,46,79,102,134,138,201,214,222,238,241,252,256,266,282,297,312],"diseases.":[14,270],"With":[15],"over":[16],"3000":[17],"mtDNA":[18,28,47,267,301],"reported":[20],"across":[21],"databases,":[22],"establishing":[23],"pathogenicity":[24,52,63],"is":[29],"major":[31],"challenge.":[32],"We":[33,272],"designed":[35],"and":[36,53,77,83,94,113,127,160,203,224,230,243,254,277,285,303,315],"developed":[37,274],"comprehensive":[39,278,295],"weighted":[40],"scoring":[41,87],"system":[42],"(MtSNPscore)":[43],"for":[44,62,171,196,280,322],"identification":[45],"that":[49,189,207,259],"can":[50,173,319],"impact":[51,101],"would":[54],"likely":[55],"be":[56,320],"associated":[57,216],"with":[58,147,151,164],"disease.":[59,289],"The":[60,86,104],"criteria":[61],"include":[64],"information":[65,175],"available":[66,130],"the":[68,99,194,211,260,293,305],"literature,":[69],"predictions":[70],"made":[71],"by":[72],"various":[73],"silico":[75],"tools":[76],"frequency":[78],"variation":[80,177,268,284],"normal":[82,95,244],"patient":[84,242],"datasets.":[85],"scheme":[88],"also":[89,263],"assigns":[90],"scores":[91,240],"to":[92,97,192,299,325],"patients":[93,146,150,163],"individuals":[96,140],"estimate":[98],"cumulative":[100,239],"variations.":[103,217],"method":[105,261,279,291],"has":[106,114,185,292],"implemented":[108],"an":[110],"automated":[111],"pipeline":[112],"tested":[116],"on":[117],"Indian":[118],"ataxia":[119,202,229],"dataset":[120,132],"(92":[121],"individuals),":[122],"sequenced":[123],"this":[125],"study,":[126],"other":[128],"publicly":[129],"mtSNP":[131,204,231],"comprising":[133],"576":[135],"genomes":[137],"Japanese":[139],"from":[141,176,180],"six":[142],"different":[143],"groups,":[144],"namely,":[145],"Parkinson's":[148],"disease,":[149,153],"Alzheimer's":[152],"young":[154,157],"obese":[155],"males,":[156,159],"non-obese":[158],"type-2":[161],"diabetes":[162],"or":[165,179],"without":[166],"severe":[167],"vascular":[168],"involvement.":[169],"MtSNPscore,":[170],"analysis":[172],"extract":[174],"data":[178,205,245],"sequences.":[183],"It":[184],"web-interface":[187],"http://bioinformatics.ccmb.res.in/cgi-bin/snpscore/Mtsnpscore.pl":[188],"provides":[190],"flexibility":[191],"update/modify":[193],"parameters":[195,298],"estimating":[197],"pathogenicity.":[198],"RESULTS:":[199],"Analysis":[200,237],"suggests":[206],"rare":[208],"variants":[209],"comprise":[210],"largest":[212],"part":[213],"disease":[215,235],"MtSNPscore":[218],"predicted":[219],"possible":[220],"role":[221],"eight":[223],"79":[225],"novel":[226,276],"datasets,":[232],"respectively,":[233],"etiology.":[236],"resulted":[246],"Matthews":[248],"Correlation":[249],"Coefficient":[250],"(MCC)":[251],"~0.5":[253],"accuracy":[255],"~0.7":[257],"suggesting":[258],"may":[262],"predict":[264],"involvement":[265,287],"CONCLUSION:":[271],"evaluation":[281],"their":[286,327],"Our":[290],"most":[294],"set":[296],"assess":[300],"overcomes":[304],"undesired":[306],"bias":[307],"generated":[308],"as":[309],"result":[311],"better-studied":[313],"diseases":[314],"genes.":[316],"These":[317],"prioritized":[321],"functional":[323],"assays":[324],"confirm":[326],"pathogenic":[328],"status.":[329]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":5},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":4}],"updated_date":"2026-08-18T07:49:30.821534","created_date":"2025-10-10T00:00:00"}
