{"id":"https://openalex.org/W2042968452","doi":"https://doi.org/10.1007/bf00293024","title":"An estimate of unique DNA sequence heterozygosity in the human genome","display_name":"An estimate of unique DNA sequence heterozygosity in the human genome","publication_year":1985,"publication_date":"1985-03-01","ids":{"openalex":"https://openalex.org/W2042968452","doi":"https://doi.org/10.1007/bf00293024","mag":"2042968452","pmid":"https://pubmed.ncbi.nlm.nih.gov/2984104"},"language":"en","primary_location":{"id":"doi:10.1007/bf00293024","doi":"https://doi.org/10.1007/bf00293024","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00293024","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042443600","display_name":"D.N. Cooper","orcid":"https://orcid.org/0000-0002-8943-8484","observed_orcids":["https://orcid.org/0000-0002-8943-8484"]},"institutions":[{"id":"https://openalex.org/I74656192","display_name":"University of G\u00f6ttingen","ror":"https://ror.org/01y9bpm73","country_code":"DE","type":"education","lineage":["https://openalex.org/I74656192"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"David N. Cooper","raw_affiliation_strings":["Institut f\u00fcr Humangenetik der Universit\u00e4t, Gosslerstrasse 12d, D-3400, G\u00f6ttingen, Germany","Institut f\u00fcr Humangenetik der Universit\u00e4t, G\u00f6ttingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t, Gosslerstrasse 12d, D-3400, G\u00f6ttingen, Germany","institution_ids":["https://openalex.org/I74656192"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t, G\u00f6ttingen, Germany","institution_ids":["https://openalex.org/I74656192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004681741","display_name":"Barbara A. Smith","orcid":"https://orcid.org/0009-0002-2413-6466","observed_orcids":["https://orcid.org/0009-0002-2413-6466"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Barbara A. Smith","raw_affiliation_strings":["MRC Mammalian Genome Unit, West Mains Road, Edinburgh, Scotland, UK","MRC Mammalian Genome Unit, Edinburgh, Scotland, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Mammalian Genome Unit, West Mains Road, Edinburgh, Scotland, UK","institution_ids":[]},{"raw_affiliation_string":"MRC Mammalian Genome Unit, Edinburgh, Scotland, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039369417","display_name":"Howard J. Cooke","orcid":"https://orcid.org/0000-0003-3309-7921","observed_orcids":["https://orcid.org/0000-0003-3309-7921"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Howard J. Cooke","raw_affiliation_strings":["MRC Mammalian Genome Unit, West Mains Road, Edinburgh, Scotland, UK","MRC Mammalian Genome Unit, Edinburgh, Scotland, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Mammalian Genome Unit, West Mains Road, Edinburgh, Scotland, UK","institution_ids":[]},{"raw_affiliation_string":"MRC Mammalian Genome Unit, Edinburgh, Scotland, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Susanne Niemann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I74656192","display_name":"University of G\u00f6ttingen","ror":"https://ror.org/01y9bpm73","country_code":"DE","type":"education","lineage":["https://openalex.org/I74656192"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Susanne Niemann","raw_affiliation_strings":["Institut f\u00fcr Humangenetik der Universit\u00e4t, Gosslerstrasse 12d, D-3400, G\u00f6ttingen, Germany","Institut f\u00fcr Humangenetik der Universit\u00e4t, G\u00f6ttingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t, Gosslerstrasse 12d, D-3400, G\u00f6ttingen, Germany","institution_ids":["https://openalex.org/I74656192"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t, G\u00f6ttingen, Germany","institution_ids":["https://openalex.org/I74656192"]}]},{"author_position":"last","author":{"id":null,"display_name":"J\ufffdrg Schmidtke","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I74656192","display_name":"University of G\u00f6ttingen","ror":"https://ror.org/01y9bpm73","country_code":"DE","type":"education","lineage":["https://openalex.org/I74656192"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"J\ufffdrg Schmidtke","raw_affiliation_strings":["Institut f\u00fcr Humangenetik der Universit\u00e4t, Gosslerstrasse 12d, D-3400, G\u00f6ttingen, Germany","Institut f\u00fcr Humangenetik der Universit\u00e4t, G\u00f6ttingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t, Gosslerstrasse 12d, D-3400, G\u00f6ttingen, Germany","institution_ids":["https://openalex.org/I74656192"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t, G\u00f6ttingen, Germany","institution_ids":["https://openalex.org/I74656192"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":9.0999,"has_fulltext":false,"cited_by_count":291,"citation_normalized_percentile":{"value":0.98624694,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"69","issue":"3","first_page":"201","last_page":"205"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.5853999853134155,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.5853999853134155,"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/T10012","display_name":"Genetic diversity and population structure","score":0.23270000517368317,"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/T10751","display_name":"Forensic and Genetic Research","score":0.08269999921321869,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/human-genome","display_name":"human genome","score":0.8059999942779541},{"id":"https://openalex.org/keywords/restriction-fragment-length-polymorphism","display_name":"restriction fragment length polymorphism","score":0.9620000123977661},{"id":"https://openalex.org/keywords/single-copy-dna","display_name":"single-copy DNA","score":0.6330000162124634},{"id":"https://openalex.org/keywords/cpg-dinucleotides","display_name":"CpG","score":0.7559999823570251},{"id":"https://openalex.org/keywords/restriction-enzymes","display_name":"restriction enzymes","score":0.7310000061988831},{"id":"https://openalex.org/keywords/genome-size-estimation","display_name":"genome size estimation","score":0.41100001335144043}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9028999209403992},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7389278411865234},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.7142659425735474},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.6846818923950195},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.6818529367446899},{"id":"https://openalex.org/C140173407","wikidata":"https://www.wikidata.org/wiki/Q1138358","display_name":"CpG site","level":5,"score":0.5296326279640198},{"id":"https://openalex.org/C168007829","wikidata":"https://www.wikidata.org/wiki/Q857299","display_name":"Restriction fragment length polymorphism","level":4,"score":0.5157506465911865},{"id":"https://openalex.org/C128319531","wikidata":"https://www.wikidata.org/wiki/Q219715","display_name":"Restriction enzyme","level":3,"score":0.436748743057251},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4360671043395996},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.42660361528396606},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3281077742576599},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.18163788318634033},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.16434702277183533},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.11092084646224976},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004262","descriptor_name":"DNA Restriction Enzymes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/bf00293024","doi":"https://doi.org/10.1007/bf00293024","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00293024","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:2984104","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2984104","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,"listed_in":[],"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":"Human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:https://orca.cardiff.ac.uk:62081","doi":null,"is_oa":false,"landing_page_url":"https://orca.cardiff.ac.uk/id/eprint/62081/","pdf_url":null,"source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W222313322","https://openalex.org/W957212517","https://openalex.org/W1513717105","https://openalex.org/W1538298016","https://openalex.org/W1563203616","https://openalex.org/W1952118757","https://openalex.org/W1968793650","https://openalex.org/W2013819454","https://openalex.org/W2016197401","https://openalex.org/W2023326581","https://openalex.org/W2027154493","https://openalex.org/W2028082957","https://openalex.org/W2029987769","https://openalex.org/W2034105248","https://openalex.org/W2045391589","https://openalex.org/W2060955370","https://openalex.org/W2063450941","https://openalex.org/W2069445267","https://openalex.org/W2084603450","https://openalex.org/W2087520599","https://openalex.org/W2088400936","https://openalex.org/W2092765135","https://openalex.org/W2144634347","https://openalex.org/W2332949416","https://openalex.org/W2436056908","https://openalex.org/W2481269125","https://openalex.org/W2575306271","https://openalex.org/W4293003414","https://openalex.org/W4300742707"],"related_works":["https://openalex.org/W2027154493","https://openalex.org/W2313234437","https://openalex.org/W647668331","https://openalex.org/W2092765135","https://openalex.org/W2000878263","https://openalex.org/W209900511","https://openalex.org/W2012950836","https://openalex.org/W4388323757","https://openalex.org/W7095881123","https://openalex.org/W2290983986"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":9},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}