{"id":"https://openalex.org/W1778950330","doi":null,"title":"Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations.","display_name":"Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations.","publication_year":1989,"publication_date":"1989-07-01","ids":{"openalex":"https://openalex.org/W1778950330","mag":"1778950330","pmid":"https://pubmed.ncbi.nlm.nih.gov/2568090","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1683385"},"language":"en","primary_location":{"id":"pmid:2568090","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2568090","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":"American journal of human genetics","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["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/A5003810507","display_name":"Michael Boehnke","orcid":"https://orcid.org/0000-0002-6442-7754","observed_orcids":["https://orcid.org/0000-0002-6442-7754"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M Boehnke","raw_affiliation_strings":["Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor 48109"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor 48109","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079568269","display_name":"Norman Arnheim","orcid":"https://orcid.org/0000-0003-1247-1347","observed_orcids":["https://orcid.org/0000-0003-1247-1347"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N Arnheim","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"H Li","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H Li","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5068242165","display_name":"Francis S. Collins","orcid":"https://orcid.org/0000-0002-1023-7410","observed_orcids":["https://orcid.org/0000-0002-1023-7410"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F S Collins","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.6186,"has_fulltext":false,"cited_by_count":52,"citation_normalized_percentile":{"value":0.95013527,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"45","issue":"1","first_page":"21","last_page":"32"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.6772000193595886,"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":0.6772000193595886,"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/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.2498999983072281,"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":0.02500000037252903,"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/pcr","display_name":"PCR","score":0.42899999022483826},{"id":"https://openalex.org/keywords/human-chromosomes","display_name":"human chromosomes","score":0.9520000219345093},{"id":"https://openalex.org/keywords/meiotic-recombination","display_name":"meiotic recombination","score":0.6589999794960022},{"id":"https://openalex.org/keywords/experimental-design","display_name":"experimental design","score":0.6259999871253967},{"id":"https://openalex.org/keywords/sample-size","display_name":"sample size","score":0.9800000190734863},{"id":"https://openalex.org/keywords/heterozygous-loci","display_name":"heterozygous loci","score":0.7170000076293945},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.3889999985694885}],"concepts":[{"id":"https://openalex.org/C2781209916","wikidata":"https://www.wikidata.org/wiki/Q3215756","display_name":"Typing","level":2,"score":0.7657150030136108},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7322060465812683},{"id":"https://openalex.org/C2781087480","wikidata":"https://www.wikidata.org/wiki/Q17145","display_name":"Sperm","level":2,"score":0.7105731964111328},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6996790170669556},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.6449285745620728},{"id":"https://openalex.org/C82381507","wikidata":"https://www.wikidata.org/wiki/Q416878","display_name":"Polymerase","level":3,"score":0.4449625611305237},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4243989586830139},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.3517202138900757},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19291576743125916}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002877","descriptor_name":"Chromosomes, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004259","descriptor_name":"DNA-Directed DNA Polymerase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005784","descriptor_name":"Gene Amplification","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","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":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011336","descriptor_name":"Probability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013094","descriptor_name":"Spermatozoa","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:2568090","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2568090","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"mag:1778950330","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2568090","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G1976475804","display_name":"LINKAGE STUDIES IN NEUROFIBROMATOSIS","funder_award_id":"5r01ns023410-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2652885913","display_name":"DESIGN ISSUES IN GENETIC LINKAGE AND SEGREGATION STUDIES","funder_award_id":"5r29gm041440-02","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4796813674","display_name":"Genetic Analysis Using Sperm Typing","funder_award_id":"R01GM036745","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W6841671","https://openalex.org/W1517480469","https://openalex.org/W1533465273","https://openalex.org/W1969267177","https://openalex.org/W1997521650","https://openalex.org/W2017428806","https://openalex.org/W2021203232","https://openalex.org/W2032118018","https://openalex.org/W2033102020","https://openalex.org/W2050717506","https://openalex.org/W2136193641","https://openalex.org/W2169345430","https://openalex.org/W2307133034","https://openalex.org/W2327295182","https://openalex.org/W2334307099","https://openalex.org/W2404120284"],"related_works":["https://openalex.org/W2076759449","https://openalex.org/W2085383876","https://openalex.org/W2061949340","https://openalex.org/W4388324657","https://openalex.org/W2189046662","https://openalex.org/W6908149787","https://openalex.org/W2079023931","https://openalex.org/W2159899592","https://openalex.org/W2086492053","https://openalex.org/W2461858655"],"abstract_inverted_index":{"The":[0],"polymerase":[1],"chain":[2],"reaction":[3],"(PCR)":[4],"makes":[5],"it":[6],"possible":[7],"to":[8,26,65],"rapidly":[9],"generate":[10],"a":[11,18,35,62,82],"very":[12,83],"large":[13,36],"number":[14,37,89],"of":[15,17,21,24,34,38,59,68,73,75,86,90,106],"copies":[16],"specific":[19],"region":[20],"DNA.":[22],"Application":[23],"PCR":[25,55,110],"individual":[27],"human":[28,113,129],"sperm":[29,52,78,107,119],"cells":[30],"permits":[31],"the":[32,44,104],"typing":[33,53,79,108,120],"independent":[39],"male":[40,46],"meiotic":[41],"events.":[42],"If":[43],"donor":[45],"is":[47],"heterozygous":[48],"at":[49],"three":[50],"loci,":[51],"using":[54],"will":[56,80,121],"permit":[57],"ordering":[58,87],"loci":[60,76],"in":[61],"manner":[63],"analogous":[64],"classical":[66],"methods":[67],"experimental":[69,97],"genetics.":[70],"Sequential":[71],"analysis":[72],"trios":[74],"by":[77,103,109],"provide":[81],"accurate":[84],"means":[85],"any":[88],"tightly":[91],"linked":[92],"loci.":[93],"Here,":[94],"we":[95,116],"describe":[96],"design":[98],"and":[99,115],"sample-size":[100],"issues":[101],"raised":[102],"application":[105],"for":[111,126],"mapping":[112],"chromosomes,":[114],"demonstrate":[117],"that":[118],"be":[122],"an":[123],"efficient":[124],"method":[125],"generating":[127],"fine-structure":[128],"genetic":[130],"maps.":[131]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
