{"id":"https://openalex.org/W1972564740","doi":"https://doi.org/10.1101/gr.939903","title":"Exo-Proofreading, A Versatile SNP Scoring Technology","display_name":"Exo-Proofreading, A Versatile SNP Scoring Technology","publication_year":2003,"publication_date":"2003-04-14","ids":{"openalex":"https://openalex.org/W1972564740","doi":"https://doi.org/10.1101/gr.939903","mag":"1972564740","pmid":"https://pubmed.ncbi.nlm.nih.gov/12695330","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/430895"},"language":"en","primary_location":{"id":"doi:10.1101/gr.939903","doi":"https://doi.org/10.1101/gr.939903","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gr.939903","pdf_url":"https://genome.cshlp.org/content/13/5/925.full.pdf","source":{"id":"https://openalex.org/S43092948","display_name":"Genome Research","issn_l":"1088-9051","issn":["1088-9051","1549-5469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome Research","raw_type":"journal-article"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://genome.cshlp.org/content/13/5/925.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Patrick Cahill","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Patrick Cahill","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA. pcahill@genomecorp.com","Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA. pcahill@genomecorp.com","institution_ids":[]},{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011635119","display_name":"Michele Bakis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michele Bakis","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003358637","display_name":"James Hurley","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"James Hurley","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111539986","display_name":"Veena Kamath","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Veena Kamath","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"William Nielsen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"William Nielsen","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058488379","display_name":"Dina Weymouth","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dina Weymouth","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053091216","display_name":"Jos\u00e9e Dupuis","orcid":"https://orcid.org/0000-0003-2871-3603","observed_orcids":["https://orcid.org/0000-0003-2871-3603"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jos\u00e9e Dupuis","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027975422","display_name":"Lynn Doucette\u2010Stamm","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lynn Doucette-Stamm","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":null,"display_name":"Douglas R. Smith","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Douglas R. Smith","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"13","issue":"5","first_page":"925","last_page":"931"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11970","display_name":"Molecular Biology Techniques and Applications","score":0.4699999988079071,"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/T11970","display_name":"Molecular Biology Techniques and Applications","score":0.4699999988079071,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.17880000174045563,"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":0.06700000166893005,"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/snp-genotyping","display_name":"SNP genotyping","score":0.8769999742507935},{"id":"https://openalex.org/keywords/exonuclease-proofreading","display_name":"exonuclease proofreading","score":0.8769999742507935},{"id":"https://openalex.org/keywords/3-to-5-exonuclease-activity","display_name":"3' to 5' exonuclease activity","score":0.8989999890327454},{"id":"https://openalex.org/keywords/dna-polymerase","display_name":"DNA polymerase","score":0.8379999995231628},{"id":"https://openalex.org/keywords/one-step-pcr","display_name":"one-step PCR","score":0.7929999828338623},{"id":"https://openalex.org/keywords/fluorescence-detection","display_name":"fluorescence detection","score":0.800000011920929},{"id":"https://openalex.org/keywords/fluorescence-polarization","display_name":"fluorescence polarization","score":0.9810000061988831},{"id":"https://openalex.org/keywords/pooled-samples","display_name":"pooled samples","score":0.7429999709129333},{"id":"https://openalex.org/keywords/allele-frequency-estimation","display_name":"allele frequency estimation","score":0.7390000224113464}],"concepts":[{"id":"https://openalex.org/C170748874","wikidata":"https://www.wikidata.org/wiki/Q21117977","display_name":"Proofreading","level":4,"score":0.9363145232200623},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8168625831604004},{"id":"https://openalex.org/C2777563447","wikidata":"https://www.wikidata.org/wiki/Q7243397","display_name":"Primer (cosmetics)","level":2,"score":0.668390691280365},{"id":"https://openalex.org/C59701697","wikidata":"https://www.wikidata.org/wiki/Q6895959","display_name":"Molecular Inversion Probe","level":5,"score":0.6037465929985046},{"id":"https://openalex.org/C2781209916","wikidata":"https://www.wikidata.org/wiki/Q3215756","display_name":"Typing","level":2,"score":0.601430356502533},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5843126177787781},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5344234108924866},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5264818668365479},{"id":"https://openalex.org/C2779186596","wikidata":"https://www.wikidata.org/wiki/Q412581","display_name":"Taq polymerase","level":5,"score":0.5228479504585266},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.498241662979126},{"id":"https://openalex.org/C17757408","wikidata":"https://www.wikidata.org/wiki/Q4135516","display_name":"genomic DNA","level":3,"score":0.4881204068660736},{"id":"https://openalex.org/C2777501222","wikidata":"https://www.wikidata.org/wiki/Q411664","display_name":"Exonuclease","level":4,"score":0.4617374837398529},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.43646439909935},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4269995391368866},{"id":"https://openalex.org/C2756471","wikidata":"https://www.wikidata.org/wiki/Q206286","display_name":"DNA polymerase","level":3,"score":0.36369192600250244},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.34117209911346436},{"id":"https://openalex.org/C2781440490","wikidata":"https://www.wikidata.org/wiki/Q137165","display_name":"Thermus aquaticus","level":4,"score":0.14875611662864685},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11533725261688232},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":true},{"descriptor_ui":"D004259","descriptor_name":"DNA-Directed DNA Polymerase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","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":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1101/gr.939903","doi":"https://doi.org/10.1101/gr.939903","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gr.939903","pdf_url":"https://genome.cshlp.org/content/13/5/925.full.pdf","source":{"id":"https://openalex.org/S43092948","display_name":"Genome Research","issn_l":"1088-9051","issn":["1088-9051","1549-5469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome Research","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:430895","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/430895","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,"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":"Genome Res","raw_type":"Text"},{"id":"pmid:12695330","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12695330","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":"Genome research","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1101/gr.939903","doi":"https://doi.org/10.1101/gr.939903","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gr.939903","pdf_url":"https://genome.cshlp.org/content/13/5/925.full.pdf","source":{"id":"https://openalex.org/S43092948","display_name":"Genome Research","issn_l":"1088-9051","issn":["1088-9051","1549-5469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome Research","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1972564740.pdf","grobid_xml":"https://content.openalex.org/works/W1972564740.grobid-xml"},"referenced_works_count":25,"referenced_works":["https://openalex.org/W1541696918","https://openalex.org/W1593794455","https://openalex.org/W1969849300","https://openalex.org/W1997521650","https://openalex.org/W1998857171","https://openalex.org/W2014038908","https://openalex.org/W2015408684","https://openalex.org/W2016237611","https://openalex.org/W2021656269","https://openalex.org/W2024564432","https://openalex.org/W2042443618","https://openalex.org/W2044692125","https://openalex.org/W2059667789","https://openalex.org/W2062050657","https://openalex.org/W2063014521","https://openalex.org/W2064063117","https://openalex.org/W2072302002","https://openalex.org/W2090126383","https://openalex.org/W2091647979","https://openalex.org/W2111765629","https://openalex.org/W2128692282","https://openalex.org/W2138329255","https://openalex.org/W2160437131","https://openalex.org/W4256271404","https://openalex.org/W6635429209"],"related_works":["https://openalex.org/W232869011","https://openalex.org/W2033982049","https://openalex.org/W2093521701","https://openalex.org/W1534429958","https://openalex.org/W2019151512","https://openalex.org/W7100238292","https://openalex.org/W2156199239","https://openalex.org/W2021558606","https://openalex.org/W1967680738","https://openalex.org/W602974802"],"abstract_inverted_index":{"We":[0,95],"report":[1],"the":[2,18,36,99],"validation":[3],"of":[4,17,23,47,65,72,88],"a":[5,45,50],"new":[6],"assay":[7,28,102],"for":[8],"typing":[9,57],"single":[10],"nucleotide":[11,38],"polymorphisms":[12],"(SNPs)":[13],"that":[14,54,77,98],"takes":[15],"advantage":[16],"3'-to-5'":[19],"exonuclease":[20],"proofreading":[21],"activity":[22],"many":[24],"DNA":[25,61],"polymerases.":[26],"The":[27,63],"uses":[29],"one":[30],"or":[31,85],"more":[32],"primers":[33],"labeled":[34],"on":[35,75,106],"3'":[37],"base,":[39],"and":[40],"can":[41,67,103],"be":[42,68,104],"implemented":[43],"in":[44],"variety":[46],"formats":[48],"including":[49],"one-step":[51],"PCR":[52],"reaction":[53],"allows":[55],"SNP":[56,101],"directly":[58],"from":[59],"genomic":[60],"samples.":[62],"detection":[64,74],"genotypes":[66],"accomplished":[69],"by":[70,86],"means":[71,87],"fluorescence":[73,89],"assays":[76],"have":[78],"been":[79],"purified":[80],"to":[81,109],"remove":[82],"excess":[83],"primer,":[84],"polarization":[90],"without":[91],"any":[92],"additional":[93],"cleanup.":[94],"also":[96],"demonstrate":[97],"Exo-Proofreading":[100],"used":[105],"pooled":[107],"samples":[108],"obtain":[110],"allele":[111],"frequency":[112],"data.":[113]},"counts_by_year":[{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
