{"doi":"10.1007/978-1-59745-159-8_14","title":"High-Throughput Single-Nucleotide Polymorphisms Genotyping","abstract":null,"journal":"Methods in Molecular Medicine™","year":2006,"id":595239,"datarank":0.31191623125197543,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"self_citation_contribution":0.31191623125197543,"citation_network_contribution":0.0,"self_endowment_contribution":0.31191623125197543,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1524136,"name":"Albert Luo","orcid":null,"position":1,"is_corresponding":false},{"id":1524137,"name":"Qing K. Wang","orcid":null,"position":2,"is_corresponding":false},{"id":1524135,"name":"Gong-Qing Shen","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"High-Throughput Single-Nucleotide Polymorphisms Genotyping","abstract":"Single-nucleotide polymorphisms (SNPs) are DNA sequence variations that occur at a single base in the genome sequence. SNPs are valuable markers for identifying genes responsible for susceptibility to common diseases, and in some cases, they are the causes of human diseases. A genetic study of a complex disease usually involves a case-control association study that requires genotyping of a large number of SNPs in hundreds of patients (cases) and matched controls. A significant difference of the allele frequency or genotypic frequency of a SNP between the two populations is considered to be the evidence for the association between the SNP and disease. A key to a fast and effective case-control association study requires high-throughput genotyping of SNPs. Two assays—the TaqMan SNP genotyping assay and the pyrosequencing assay—have been developed for this purpose and proven to be particularly useful. Here, we present the operative protocol, clarify the key technical issues, and highlight certain cautionary notes for high throughput SNP genotyping using TaqMan and pyrosequencing assays.","is_dataset_classified":null,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"17071998","pmcid":null,"openalex_id":"https://openalex.org/W2490112399","authors":[],"funders":[{"funder_name":"NHLBI NIH HHS","grant_id":"P50 HL77107","title":null},{"funder_name":"NHLBI NIH HHS","grant_id":"R01 HL65630","title":null},{"funder_name":"NHLBI NIH HHS","grant_id":"R01 HL66251","title":null}],"total_grants":3,"fwci":3.2614,"citation_percentile":0.93147039,"influential_citations":0,"citation_trend":[{"year":2012,"count":1},{"year":2013,"count":1},{"year":2018,"count":1},{"year":2020,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"http://link.springer.com/content/pdf/10.1007/978-1-59745-159-8_14.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1007/978-1-59745-159-8_14","host_type":"book series"}],"fields_of_study":["Genomics and Rare Diseases","Machine Learning in Bioinformatics","Genetics and Neurodevelopmental Disorders","Gene Frequency","Genetic Predisposition to Disease","Genotype","Humans","Polymerase Chain Reaction","Polymorphism, Single Nucleotide","Sequence Analysis, DNA","Software"],"mesh_terms":["Humans","Genetic Predisposition to Disease","Polymerase Chain Reaction","Sequence Analysis, DNA","Gene Frequency","Genotype","Polymorphism, Single Nucleotide","Software"],"keywords":["Genotyping","SNP genotyping","Single-nucleotide polymorphism","SNP","Pyrosequencing","TaqMan","Genetics","Biology","Molecular Inversion Probe","Genotype","SNP array","Genetic association","Allele","Allele frequency","Computational biology","Gene","Polymerase chain reaction"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Zero hunger"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-27T16:57:02.996385Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}