{"id":"https://openalex.org/W139720848","doi":"https://doi.org/10.1007/978-94-015-8135-6_7","title":"Applications of Recombinant DNA Technology to the Diagnosis of Genetic Disease: Molecular Methods for Detecting the Genetic Basis of Diseases","display_name":"Applications of Recombinant DNA Technology to the Diagnosis of Genetic Disease: Molecular Methods for Detecting the Genetic Basis of Diseases","publication_year":1993,"publication_date":"1993-01-01","ids":{"openalex":"https://openalex.org/W139720848","doi":"https://doi.org/10.1007/978-94-015-8135-6_7","mag":"139720848"},"language":"en","primary_location":{"id":"doi:10.1007/978-94-015-8135-6_7","doi":"https://doi.org/10.1007/978-94-015-8135-6_7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-94-015-8135-6_7","pdf_url":null,"source":{"id":"https://openalex.org/S4306463937","display_name":"Springer eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biotechnology and Pharmacy","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W127475325","display_name":"Biotechnology and Pharmacy"},"type":"book-chapter","indexed_in":["crossref"],"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/A5018295094","display_name":"Donna R. Maglott","orcid":"https://orcid.org/0000-0001-7451-4467","observed_orcids":["https://orcid.org/0000-0001-7451-4467"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Donna R. Maglott","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5023016225","display_name":"William C. Nierman","orcid":"https://orcid.org/0000-0002-0425-9840","observed_orcids":["https://orcid.org/0000-0002-0425-9840"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"William C. Nierman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.06673511,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"155","last_page":"192"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9824000000953674,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9824000000953674,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.00419999985024333,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.0034000000450760126,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/recombinant-dna-technology","display_name":"recombinant DNA technology","score":0.9120000004768372},{"id":"https://openalex.org/keywords/genetic-disease-diagnosis","display_name":"genetic disease diagnosis","score":0.9679999947547913},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.4959999918937683},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.6629999876022339},{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.8289999961853027},{"id":"https://openalex.org/keywords/indels","display_name":"indels","score":0.9020000100135803},{"id":"https://openalex.org/keywords/chromosomal-rearrangements","display_name":"chromosomal rearrangements","score":0.824999988079071},{"id":"https://openalex.org/keywords/aneuploidy","display_name":"aneuploidy","score":1.0},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.734000027179718},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.9890000224113464},{"id":"https://openalex.org/keywords/immunoglobulin-gene-rearrangement","display_name":"immunoglobulin gene rearrangement","score":0.7440000176429749},{"id":"https://openalex.org/keywords/t-cell-receptor-gene-rearrangement","display_name":"T-cell receptor gene rearrangement","score":0.9639999866485596},{"id":"https://openalex.org/keywords/hematologic-malignancies","display_name":"hematologic malignancies","score":0.9670000076293945},{"id":"https://openalex.org/keywords/carrier-status","display_name":"carrier state","score":0.7409999966621399}],"concepts":[{"id":"https://openalex.org/C40767141","wikidata":"https://www.wikidata.org/wiki/Q285697","display_name":"Recombinant DNA","level":3,"score":0.6711837649345398},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5265747904777527},{"id":"https://openalex.org/C23837897","wikidata":"https://www.wikidata.org/wiki/Q159236","display_name":"Genetic engineering","level":3,"score":0.48259174823760986},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4621937870979309},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4610532820224762},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.44582098722457886},{"id":"https://openalex.org/C12426560","wikidata":"https://www.wikidata.org/wiki/Q189569","display_name":"Basis (linear algebra)","level":2,"score":0.42550987005233765},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4134315848350525},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.258303165435791},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19002142548561096},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.10282725095748901},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.073038250207901},{"id":"https://openalex.org/C2524010","wikidata":"https://www.wikidata.org/wiki/Q8087","display_name":"Geometry","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-94-015-8135-6_7","doi":"https://doi.org/10.1007/978-94-015-8135-6_7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-94-015-8135-6_7","pdf_url":null,"source":{"id":"https://openalex.org/S4306463937","display_name":"Springer eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biotechnology and Pharmacy","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9074000120162964,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":87,"referenced_works":["https://openalex.org/W19910863","https://openalex.org/W31962923","https://openalex.org/W43794887","https://openalex.org/W58742088","https://openalex.org/W135128205","https://openalex.org/W344196829","https://openalex.org/W389194608","https://openalex.org/W1459337812","https://openalex.org/W1486020487","https://openalex.org/W1497850848","https://openalex.org/W1536463027","https://openalex.org/W1542836032","https://openalex.org/W1544186436","https://openalex.org/W1549470101","https://openalex.org/W1597901734","https://openalex.org/W1643869946","https://openalex.org/W1706057004","https://openalex.org/W1760439020","https://openalex.org/W1760723619","https://openalex.org/W1803375514","https://openalex.org/W1909665571","https://openalex.org/W1927945937","https://openalex.org/W1965059484","https://openalex.org/W1970546892","https://openalex.org/W1972608831","https://openalex.org/W1976277928","https://openalex.org/W1978081872","https://openalex.org/W1982016399","https://openalex.org/W1985038720","https://openalex.org/W1988486511","https://openalex.org/W1996449685","https://openalex.org/W1999006276","https://openalex.org/W2003047150","https://openalex.org/W2003217663","https://openalex.org/W2005433274","https://openalex.org/W2008690643","https://openalex.org/W2008748930","https://openalex.org/W2011070825","https://openalex.org/W2011802271","https://openalex.org/W2012270648","https://openalex.org/W2017733983","https://openalex.org/W2018600945","https://openalex.org/W2027203353","https://openalex.org/W2033102020","https://openalex.org/W2043522420","https://openalex.org/W2046252178","https://openalex.org/W2048165117","https://openalex.org/W2050717506","https://openalex.org/W2051104049","https://openalex.org/W2052950286","https://openalex.org/W2054549064","https://openalex.org/W2055885027","https://openalex.org/W2060260380","https://openalex.org/W2060413589","https://openalex.org/W2063450941","https://openalex.org/W2066795911","https://openalex.org/W2067504691","https://openalex.org/W2075300416","https://openalex.org/W2075634512","https://openalex.org/W2082607914","https://openalex.org/W2084507708","https://openalex.org/W2085711794","https://openalex.org/W2087184465","https://openalex.org/W2093377166","https://openalex.org/W2095156669","https://openalex.org/W2114299083","https://openalex.org/W2114639593","https://openalex.org/W2114999674","https://openalex.org/W2116302199","https://openalex.org/W2125391335","https://openalex.org/W2147079876","https://openalex.org/W2148312059","https://openalex.org/W2150465915","https://openalex.org/W2156872475","https://openalex.org/W2163285329","https://openalex.org/W2166208988","https://openalex.org/W2167105480","https://openalex.org/W2337039596","https://openalex.org/W2337472788","https://openalex.org/W2410126073","https://openalex.org/W2465221902","https://openalex.org/W2472415017","https://openalex.org/W2579255122","https://openalex.org/W2913671386","https://openalex.org/W4231651337","https://openalex.org/W4245113749","https://openalex.org/W4407829856"],"related_works":["https://openalex.org/W1972809462","https://openalex.org/W2143947772","https://openalex.org/W3394610","https://openalex.org/W2040353387","https://openalex.org/W2078689931","https://openalex.org/W2146616063","https://openalex.org/W2931820813","https://openalex.org/W2294512630","https://openalex.org/W1576729277","https://openalex.org/W4377823798"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-06-24T00:00:00"}
