{"id":"https://openalex.org/W2111175281","doi":"https://doi.org/10.1093/bioinformatics/btq367","title":"Maximum likelihood estimation of locus-specific mutation rates in Y-chromosome short tandem repeats","display_name":"Maximum likelihood estimation of locus-specific mutation rates in Y-chromosome short tandem repeats","publication_year":2010,"publication_date":"2010-09-04","ids":{"openalex":"https://openalex.org/W2111175281","doi":"https://doi.org/10.1093/bioinformatics/btq367","mag":"2111175281","pmid":"https://pubmed.ncbi.nlm.nih.gov/20823305"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btq367","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btq367","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/26/18/i440/534197/btq367.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/26/18/i440/534197/btq367.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032635593","display_name":"Osnat Ravid-Amir","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Osnat Ravid-Amir","raw_affiliation_strings":["Department of Statistics and Operation Research, Tel Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Statistics and Operation Research, Tel Aviv, Israel","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5039021124","display_name":"Saharon Rosset","orcid":"https://orcid.org/0000-0002-4458-9545"},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Saharon Rosset","raw_affiliation_strings":["Department of Statistics and Operation Research, Tel Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Statistics and Operation Research, Tel Aviv, Israel","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5039021124"],"corresponding_institution_ids":[],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":1.0569,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.79350994,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"26","issue":"18","first_page":"i440","last_page":"i445"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10751","display_name":"Forensic and Genetic Research","score":0.9991000294685364,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10751","display_name":"Forensic and Genetic Research","score":0.9991000294685364,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.996399998664856,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9889000058174133,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/locus","display_name":"Locus (genetics)","score":0.7114426493644714},{"id":"https://openalex.org/keywords/microsatellite","display_name":"Microsatellite","score":0.695755660533905},{"id":"https://openalex.org/keywords/tandem-repeat","display_name":"Tandem repeat","score":0.6841356754302979},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6637108325958252},{"id":"https://openalex.org/keywords/mutation-rate","display_name":"Mutation rate","score":0.5894140601158142},{"id":"https://openalex.org/keywords/maximum-likelihood","display_name":"Maximum likelihood","score":0.5710589289665222},{"id":"https://openalex.org/keywords/variable-number-tandem-repeat","display_name":"Variable number tandem repeat","score":0.49138250946998596},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.48707297444343567},{"id":"https://openalex.org/keywords/chromosome","display_name":"Chromosome","score":0.451504111289978},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.2445768415927887},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.21091148257255554},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.149468332529068},{"id":"https://openalex.org/keywords/allele","display_name":"Allele","score":0.11883801221847534},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.09163293242454529}],"concepts":[{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7114426493644714},{"id":"https://openalex.org/C61320498","wikidata":"https://www.wikidata.org/wiki/Q265193","display_name":"Microsatellite","level":4,"score":0.695755660533905},{"id":"https://openalex.org/C27149982","wikidata":"https://www.wikidata.org/wiki/Q3456514","display_name":"Tandem repeat","level":4,"score":0.6841356754302979},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6637108325958252},{"id":"https://openalex.org/C98638677","wikidata":"https://www.wikidata.org/wiki/Q2067051","display_name":"Mutation rate","level":3,"score":0.5894140601158142},{"id":"https://openalex.org/C49781872","wikidata":"https://www.wikidata.org/wiki/Q1045555","display_name":"Maximum likelihood","level":2,"score":0.5710589289665222},{"id":"https://openalex.org/C189036908","wikidata":"https://www.wikidata.org/wiki/Q2587423","display_name":"Variable number tandem repeat","level":4,"score":0.49138250946998596},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48707297444343567},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.451504111289978},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.2445768415927887},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.21091148257255554},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.149468332529068},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.11883801221847534},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.09163293242454529}],"mesh":[{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"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":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016013","descriptor_name":"Likelihood Functions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016013","descriptor_name":"Likelihood Functions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016013","descriptor_name":"Likelihood Functions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btq367","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btq367","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/26/18/i440/534197/btq367.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:20823305","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20823305","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:2935444","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2935444","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btq367","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btq367","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/26/18/i440/534197/btq367.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G7689634590","display_name":"Statistical and Computational Genetics Tools for Investigation of Human History from Large Genetic Datasets","funder_award_id":"208019","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2111175281.pdf","grobid_xml":"https://content.openalex.org/works/W2111175281.grobid-xml"},"referenced_works_count":33,"referenced_works":["https://openalex.org/W27851543","https://openalex.org/W1516646446","https://openalex.org/W1528905581","https://openalex.org/W1984284767","https://openalex.org/W1987052891","https://openalex.org/W1992397268","https://openalex.org/W1995819860","https://openalex.org/W1995945562","https://openalex.org/W1997472126","https://openalex.org/W2006605767","https://openalex.org/W2027283031","https://openalex.org/W2030816962","https://openalex.org/W2045362911","https://openalex.org/W2053012574","https://openalex.org/W2079642742","https://openalex.org/W2097920075","https://openalex.org/W2101856985","https://openalex.org/W2106882784","https://openalex.org/W2125492442","https://openalex.org/W2155555725","https://openalex.org/W2160982584","https://openalex.org/W2165695298","https://openalex.org/W2166439318","https://openalex.org/W2169133981","https://openalex.org/W2169541082","https://openalex.org/W2325343629","https://openalex.org/W2337564029","https://openalex.org/W2802411782","https://openalex.org/W3106889297","https://openalex.org/W4299503428","https://openalex.org/W4301861531","https://openalex.org/W4388324679","https://openalex.org/W6684812898"],"related_works":["https://openalex.org/W1977759172","https://openalex.org/W2435463261","https://openalex.org/W2045035622","https://openalex.org/W2384012027","https://openalex.org/W2119436849","https://openalex.org/W2121546023","https://openalex.org/W2058825091","https://openalex.org/W2373611073","https://openalex.org/W2102118092","https://openalex.org/W2062243448"],"abstract_inverted_index":{"MOTIVATION:":[0],"Y-chromosome":[1],"short":[2],"tandem":[3],"repeats":[4],"(Y-STRs)":[5],"are":[6,92],"widely":[7],"used":[8],"for":[9,34,68,115,124,130],"population":[10],"studies,":[11,102],"forensic":[12],"purposes":[13],"and,":[14],"potentially,":[15],"the":[16,46,59],"study":[17],"of":[18,22,36,61,73],"disease,":[19],"therefore":[20],"knowledge":[21],"their":[23],"mutation":[24,39,74,121,135],"rate":[25,122,136],"is":[26,107],"valuable.":[27],"Here":[28],"we":[29,57,119],"show":[30,88],"a":[31],"novel":[32],"method":[33,79],"estimation":[35],"site-specific":[37],"Y-STR":[38,52,81],"rates":[40],"from":[41,83],"partial":[42],"phylogenetic":[43],"information,":[44],"via":[45],"maximum":[47,70],"likelihood":[48,60,71],"framework.":[49],"RESULTS:":[50],"Given":[51],"data":[53,82,105],"classified":[54],"into":[55],"haplogroups,":[56],"de-scribe":[58],"observed":[62],"data,":[63],"and":[64,110],"develop":[65],"optimization":[66],"strategies":[67],"deriving":[69],"estimates":[72,91,123],"rates.":[75],"We":[76,87],"apply":[77],"our":[78,90,104,116],"to":[80],"two":[84],"recent":[85],"papers.":[86],"that":[89],"comparable,":[93],"often":[94],"more":[95],"accurate":[96],"than":[97],"those":[98],"obtained":[99],"in":[100],"familial":[101],"although":[103],"sample":[106],"much":[108],"smaller,":[109],"was":[111],"not":[112],"collected":[113],"specifically":[114],"study.":[117],"Furthermore,":[118],"obtain":[120],"DYS388,":[125],"DYS426,":[126],"DYS457,":[127],"three":[128],"STRs":[129],"which":[131],"there":[132],"were":[133],"no":[134],"measures":[137],"until":[138],"now.":[139]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-08-08T07:41:36.138363","created_date":"2025-10-10T00:00:00"}