{"id":"https://openalex.org/W1995444476","doi":"https://doi.org/10.1007/s00439-002-0722-6","title":"Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing","display_name":"Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing","publication_year":2002,"publication_date":"2002-04-09","ids":{"openalex":"https://openalex.org/W1995444476","doi":"https://doi.org/10.1007/s00439-002-0722-6","mag":"1995444476","pmid":"https://pubmed.ncbi.nlm.nih.gov/12073008"},"language":"en","primary_location":{"id":"doi:10.1007/s00439-002-0722-6","doi":"https://doi.org/10.1007/s00439-002-0722-6","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00439-002-0722-6","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/A5075750583","display_name":"Jonathan D. Gruber","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090567","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jonathan D. Gruber","raw_affiliation_strings":["Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases/NIH, 4212 North 16th Street, Phoenix, AZ 85016, USA","Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases/NIH, 4212 North 16th Street, Phoenix, AZ 85016, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]},{"raw_affiliation_string":"Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082960986","display_name":"Peter B. Colligan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090567","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter B. Colligan","raw_affiliation_strings":["Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA, USA","Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]},{"raw_affiliation_string":"Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049445900","display_name":"Johanna Kay DiStefano","orcid":"https://orcid.org/0000-0002-3286-0270","observed_orcids":["https://orcid.org/0000-0002-3286-0270"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090567","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Johanna K. Wolford","raw_affiliation_strings":["Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA, USA","Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]},{"raw_affiliation_string":"Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th Street, Phoenix, AZ 85016, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5049445900"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":6.5419,"has_fulltext":false,"cited_by_count":118,"citation_normalized_percentile":{"value":0.97312156,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"110","issue":"5","first_page":"395","last_page":"401"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.951200008392334,"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":0.951200008392334,"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":0.014299999922513962,"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":0.009800000116229057,"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/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8320000171661377},{"id":"https://openalex.org/keywords/allele-frequency-estimation","display_name":"allele frequency estimation","score":0.9359999895095825},{"id":"https://openalex.org/keywords/pyrosequencing","display_name":"pyrosequencing","score":0.8610000014305115},{"id":"https://openalex.org/keywords/type-2-diabetes","display_name":"type 2 diabetes","score":0.984000027179718},{"id":"https://openalex.org/keywords/positional-cloning","display_name":"positional cloning","score":0.8299999833106995},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"genome-wide association study","score":0.6990000009536743},{"id":"https://openalex.org/keywords/complex-diseases","display_name":"complex diseases","score":0.6359999775886536}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8580580949783325},{"id":"https://openalex.org/C125009961","wikidata":"https://www.wikidata.org/wiki/Q2342248","display_name":"Pyrosequencing","level":3,"score":0.843368411064148},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.7805663347244263},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.754327118396759},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.7173585295677185},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.6982938647270203},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6969661712646484},{"id":"https://openalex.org/C163691529","wikidata":"https://www.wikidata.org/wiki/Q7391886","display_name":"SNP genotyping","level":5,"score":0.5125743746757507},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4884470999240875},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3898840546607971},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.32089778780937195}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007198","descriptor_name":"Indians, North American","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s00439-002-0722-6","doi":"https://doi.org/10.1007/s00439-002-0722-6","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00439-002-0722-6","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:12073008","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12073008","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"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":12,"referenced_works":["https://openalex.org/W1642457845","https://openalex.org/W1658221551","https://openalex.org/W1670573097","https://openalex.org/W2041421438","https://openalex.org/W2082588492","https://openalex.org/W2093166014","https://openalex.org/W2096051150","https://openalex.org/W2129826774","https://openalex.org/W2142914825","https://openalex.org/W2144787319","https://openalex.org/W2161381121","https://openalex.org/W2170293889"],"related_works":["https://openalex.org/W1592087829","https://openalex.org/W2182387632","https://openalex.org/W48629577","https://openalex.org/W2417781406","https://openalex.org/W2049379982","https://openalex.org/W2021951244","https://openalex.org/W2065369120","https://openalex.org/W2144787319","https://openalex.org/W2118514444","https://openalex.org/W205824524"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
