{"id":"https://openalex.org/W2042367595","doi":"https://doi.org/10.1186/1471-2105-12-26","title":"Predicting functionally important SNP classes based on negative selection","display_name":"Predicting functionally important SNP classes based on negative selection","publication_year":2011,"publication_date":"2011-01-19","ids":{"openalex":"https://openalex.org/W2042367595","doi":"https://doi.org/10.1186/1471-2105-12-26","mag":"2042367595","pmid":"https://pubmed.ncbi.nlm.nih.gov/21247465"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2105-12-26","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-12-26","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-12-26","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-12-26","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055485656","display_name":"Mark A. Levenstien","orcid":null},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Mark A Levenstien","raw_affiliation_strings":["Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA","Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, USA","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5015132763","display_name":"Robert J. Klein","orcid":"https://orcid.org/0000-0003-3539-5391"},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert J Klein","raw_affiliation_strings":["Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, 10065, USA","Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, 10065, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, USA","institution_ids":["https://openalex.org/I1334819555"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5055485656"],"corresponding_institution_ids":["https://openalex.org/I1334819555"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":0.3962,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.68042202,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"12","issue":"1","first_page":"26","last_page":"26"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.6122999787330627,"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":0.6122999787330627,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.319599986076355,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.006800000090152025,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/tag-snp","display_name":"Tag SNP","score":0.763958752155304},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.7176728248596191},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.7035243511199951},{"id":"https://openalex.org/keywords/ensembl","display_name":"Ensembl","score":0.6352288126945496},{"id":"https://openalex.org/keywords/snp-genotyping","display_name":"SNP genotyping","score":0.6092544794082642},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5953376889228821},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.567395031452179},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5390251874923706},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"Linkage disequilibrium","score":0.5276497602462769},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.49635177850723267},{"id":"https://openalex.org/keywords/negative-selection","display_name":"Negative selection","score":0.49522557854652405},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.49256569147109985},{"id":"https://openalex.org/keywords/refseq","display_name":"RefSeq","score":0.43778735399246216},{"id":"https://openalex.org/keywords/selection","display_name":"Selection (genetic algorithm)","score":0.4294174611568451},{"id":"https://openalex.org/keywords/nonsynonymous-substitution","display_name":"Nonsynonymous substitution","score":0.4131471514701843},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.33580291271209717},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.30679816007614136},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.15222778916358948},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.07116404175758362}],"concepts":[{"id":"https://openalex.org/C55060382","wikidata":"https://www.wikidata.org/wiki/Q7675093","display_name":"Tag SNP","level":5,"score":0.763958752155304},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.7176728248596191},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7035243511199951},{"id":"https://openalex.org/C141674004","wikidata":"https://www.wikidata.org/wiki/Q1344256","display_name":"Ensembl","level":5,"score":0.6352288126945496},{"id":"https://openalex.org/C163691529","wikidata":"https://www.wikidata.org/wiki/Q7391886","display_name":"SNP genotyping","level":5,"score":0.6092544794082642},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5953376889228821},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.567395031452179},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5390251874923706},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.5276497602462769},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.49635177850723267},{"id":"https://openalex.org/C7386963","wikidata":"https://www.wikidata.org/wiki/Q3954859","display_name":"Negative selection","level":4,"score":0.49522557854652405},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.49256569147109985},{"id":"https://openalex.org/C151810110","wikidata":"https://www.wikidata.org/wiki/Q7307074","display_name":"RefSeq","level":4,"score":0.43778735399246216},{"id":"https://openalex.org/C81917197","wikidata":"https://www.wikidata.org/wiki/Q628760","display_name":"Selection (genetic algorithm)","level":2,"score":0.4294174611568451},{"id":"https://openalex.org/C149904235","wikidata":"https://www.wikidata.org/wiki/Q7049620","display_name":"Nonsynonymous substitution","level":4,"score":0.4131471514701843},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.33580291271209717},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.30679816007614136},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.15222778916358948},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.07116404175758362},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","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":"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":"D006801","descriptor_name":"Humans","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":"D012641","descriptor_name":"Selection, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012641","descriptor_name":"Selection, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012641","descriptor_name":"Selection, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D044127","descriptor_name":"Epigenesis, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044127","descriptor_name":"Epigenesis, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044127","descriptor_name":"Epigenesis, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1186/1471-2105-12-26","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-12-26","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-12-26","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:21247465","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21247465","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,"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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:doaj.org/article:b63baba6b012431e9208768fa196e02d","is_oa":false,"landing_page_url":"https://doaj.org/article/b63baba6b012431e9208768fa196e02d","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, Vol 12, Iss 1, p 26 (2011)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3033802","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3033802","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,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1186/1471-2105-12-26","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-12-26","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-12-26","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/15","score":0.6899999976158142,"display_name":"Life in Land"}],"awards":[{"id":"https://openalex.org/G1514215252","display_name":null,"funder_award_id":"P30 CA008748","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2051006376","display_name":null,"funder_award_id":"CA008748","funder_id":"https://openalex.org/F4320309468","funder_display_name":"Memorial Sloan-Kettering Cancer Center"},{"id":"https://openalex.org/G2527744758","display_name":null,"funder_award_id":"NIH P30 CA008748","funder_id":"https://openalex.org/F4320309468","funder_display_name":"Memorial Sloan-Kettering Cancer Center"},{"id":"https://openalex.org/G5952067233","display_name":null,"funder_award_id":"CA008748","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6070489562","display_name":null,"funder_award_id":"P30 CA008748","funder_id":"https://openalex.org/F4320309468","funder_display_name":"Memorial Sloan-Kettering Cancer Center"},{"id":"https://openalex.org/G6273700042","display_name":null,"funder_award_id":"NIH P30 CA008748","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320309468","display_name":"Memorial Sloan-Kettering Cancer Center","ror":"https://ror.org/02yrq0923"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2042367595.pdf","grobid_xml":"https://content.openalex.org/works/W2042367595.grobid-xml"},"referenced_works_count":68,"referenced_works":["https://openalex.org/W1499959019","https://openalex.org/W1944558458","https://openalex.org/W1964096828","https://openalex.org/W1968006026","https://openalex.org/W1975899243","https://openalex.org/W1983540007","https://openalex.org/W1984936387","https://openalex.org/W1985785080","https://openalex.org/W1990533032","https://openalex.org/W1992834799","https://openalex.org/W1994664175","https://openalex.org/W1995404520","https://openalex.org/W1995751421","https://openalex.org/W1998745514","https://openalex.org/W2010348162","https://openalex.org/W2015416439","https://openalex.org/W2027590199","https://openalex.org/W2029722028","https://openalex.org/W2029760674","https://openalex.org/W2036198235","https://openalex.org/W2040191060","https://openalex.org/W2044832480","https://openalex.org/W2048755332","https://openalex.org/W2061680337","https://openalex.org/W2062478949","https://openalex.org/W2073184521","https://openalex.org/W2074718000","https://openalex.org/W2080434054","https://openalex.org/W2082122713","https://openalex.org/W2083245183","https://openalex.org/W2087444873","https://openalex.org/W2092390808","https://openalex.org/W2097040991","https://openalex.org/W2097247977","https://openalex.org/W2097755752","https://openalex.org/W2105269157","https://openalex.org/W2110065044","https://openalex.org/W2113784410","https://openalex.org/W2115137820","https://openalex.org/W2117234914","https://openalex.org/W2117386992","https://openalex.org/W2118246164","https://openalex.org/W2120388891","https://openalex.org/W2120451046","https://openalex.org/W2120456037","https://openalex.org/W2123340910","https://openalex.org/W2127981150","https://openalex.org/W2136078375","https://openalex.org/W2136587207","https://openalex.org/W2143238378","https://openalex.org/W2145371252","https://openalex.org/W2147111825","https://openalex.org/W2147154551","https://openalex.org/W2148830266","https://openalex.org/W2151464048","https://openalex.org/W2152775760","https://openalex.org/W2153010521","https://openalex.org/W2160938004","https://openalex.org/W2161978970","https://openalex.org/W2162474401","https://openalex.org/W2164507097","https://openalex.org/W2164716330","https://openalex.org/W2165686834","https://openalex.org/W2168272873","https://openalex.org/W2169465846","https://openalex.org/W2169486314","https://openalex.org/W2559028527","https://openalex.org/W3145351529"],"related_works":["https://openalex.org/W2039941094","https://openalex.org/W4386011922","https://openalex.org/W2076586896","https://openalex.org/W2098680190","https://openalex.org/W4383818008","https://openalex.org/W2068850418","https://openalex.org/W2145809383","https://openalex.org/W2010737390","https://openalex.org/W3109735703","https://openalex.org/W2041889388"],"abstract_inverted_index":{"BACKGROUND:":[0],"With":[1],"the":[2,105,109,116,146,158,168,208],"advent":[3],"of":[4,16,18,83,148,160,251],"cost-effective":[5],"genotyping":[6],"technologies,":[7],"genome-wide":[8,239],"association":[9,24],"studies":[10,74,237],"allow":[11],"researchers":[12,30],"to":[13,38,78,89,94,122,136,139,167,178,207],"examine":[14],"hundreds":[15],"thousands":[17],"single":[19],"nucleotide":[20],"polymorphisms":[21],"(SNPs)":[22],"for":[23,68,72,99,163,235],"with":[25,40,50],"human":[26,117],"disease.":[27],"Recently,":[28],"many":[29],"applying":[31],"this":[32,175],"strategy":[33],"have":[34,224],"detected":[35],"strong":[36,233],"associations":[37],"disease":[39],"SNP":[41,53,70,97,242],"markers":[42],"that":[43,85,231],"are":[44,86,220,232],"either":[45],"not":[46],"in":[47,92,108,115,134,205,248],"linkage":[48],"disequilibrium":[49],"any":[51,58],"nonsynonymous":[52],"or":[54],"large":[55],"distances":[56],"from":[57],"annotated":[59,185,218],"gene.":[60],"In":[61],"such":[62,125,188],"cases,":[63],"no":[64],"well-established":[65],"standard":[66],"practice":[67],"effective":[69],"selection":[71,98,162,204],"follow-up":[73,100,236],"exists.":[75],"We":[76,173],"aim":[77],"identify":[79],"and":[80,129,142,228],"prioritize":[81],"groups":[82],"SNPs":[84,114,181,230],"more":[87],"likely":[88],"affect":[90],"phenotypes":[91],"order":[93],"facilitate":[95],"efficient":[96],"studies.":[101,254],"RESULTS:":[102],"Based":[103],"on":[104],"annotations":[106],"available":[107],"Ensembl":[110,187],"database,":[111],"we":[112,156],"categorized":[113],"genome":[118,169,209],"into":[119],"classes":[120,137,197,219],"related":[121,138],"regulatory":[123],"attributes,":[124],"as":[126,170,189,194,196,210],"epigenetic":[127],"modifications":[128],"transcription":[130],"factor":[131],"binding":[132],"sites,":[133],"addition":[135],"gene":[140],"structure":[141],"cross-species":[143,200],"conservation.":[144],"Using":[145],"distribution":[147],"derived":[149],"allele":[150],"frequencies":[151],"(DAF)":[152],"within":[153],"each":[154,164],"class,":[155],"assessed":[157],"strength":[159],"natural":[161],"class":[165],"relative":[166],"a":[171,211],"whole.":[172,212],"applied":[174],"DAF":[176],"analysis":[177],"Perlegen":[179],"resequenced":[180],"genome-wide.":[182],"Regulatory":[183],"elements":[184],"by":[186,199],"specific":[190],"histone":[191],"methylation":[192],"sites":[193],"well":[195],"defined":[198],"conservation":[201],"showed":[202],"negative":[203],"comparison":[206],"CONCLUSIONS:":[213],"These":[214],"results":[215,250],"highlight":[216],"which":[217],"under":[221],"purifying":[222],"selection,":[223],"putative":[225],"functional":[226],"importance,":[227],"contain":[229],"candidates":[234],"after":[238],"association.":[240],"Such":[241],"annotation":[243],"may":[244],"also":[245],"be":[246],"useful":[247],"interpreting":[249],"whole-genome":[252],"sequencing":[253]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-05-20T08:49:12.498775","created_date":"2025-10-10T00:00:00"}
