{"id":"https://openalex.org/W3209616180","doi":"https://doi.org/10.1146/annurev-pathol-042220-022304","title":"DNA Methylation Profiling: An Emerging Paradigm for Cancer Diagnosis","display_name":"DNA Methylation Profiling: An Emerging Paradigm for Cancer Diagnosis","publication_year":2021,"publication_date":"2021-11-05","ids":{"openalex":"https://openalex.org/W3209616180","doi":"https://doi.org/10.1146/annurev-pathol-042220-022304","mag":"3209616180","pmid":"https://pubmed.ncbi.nlm.nih.gov/34736341"},"language":"en","primary_location":{"id":"doi:10.1146/annurev-pathol-042220-022304","doi":"https://doi.org/10.1146/annurev-pathol-042220-022304","is_oa":false,"landing_page_url":"https://doi.org/10.1146/annurev-pathol-042220-022304","pdf_url":null,"source":{"id":"https://openalex.org/S188288600","display_name":"Annual Review of Pathology Mechanisms of Disease","issn_l":"1553-4006","issn":["1553-4006","1553-4014"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","medline","norway-1","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320373","host_organization_name":"Annual Reviews","host_organization_lineage":["https://openalex.org/P4310320373"],"host_organization_lineage_names":["Annual Reviews"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annual Review of Pathology: Mechanisms of Disease","raw_type":"journal-article"},"volume":null,"type":"review","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/A5049142712","display_name":"Antonios Papanicolau\u2010Sengos","orcid":"https://orcid.org/0009-0008-9276-7052","observed_orcids":["https://orcid.org/0009-0008-9276-7052"]},"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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Antonios Papanicolau-Sengos","raw_affiliation_strings":["Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892, USA;,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892, USA;,","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063290790","display_name":"Kenneth Aldape","orcid":"https://orcid.org/0000-0001-5119-7550","observed_orcids":["https://orcid.org/0000-0001-5119-7550"]},"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/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kenneth Aldape","raw_affiliation_strings":["Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892, USA;,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892, USA;,","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.7173,"has_fulltext":false,"cited_by_count":283,"citation_normalized_percentile":{"value":0.97546354,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":100},"biblio":{"volume":"17","issue":"1","first_page":"295","last_page":"321"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10269","display_name":"Epigenetics and DNA Methylation","score":0.9253000020980835,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.9253000020980835,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.04610000178217888,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T10129","display_name":"Glioma Diagnosis and Treatment","score":0.006000000052154064,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/dna-methylation-profiling","display_name":"DNA methylation profiling","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cancer-diagnosis","display_name":"cancer diagnosis","score":0.9670000076293945},{"id":"https://openalex.org/keywords/tumor-classification","display_name":"tumor classification","score":0.5609999895095825},{"id":"https://openalex.org/keywords/circulating-tumor-dna","display_name":"circulating tumor DNA","score":0.6729999780654907},{"id":"https://openalex.org/keywords/epigenetics","display_name":"epigenetics","score":0.6539999842643738},{"id":"https://openalex.org/keywords/central-nervous-system-tumors","display_name":"central nervous system tumors","score":0.8180000185966492},{"id":"https://openalex.org/keywords/soft-tissue-tumors","display_name":"soft tissue tumor","score":1.0},{"id":"https://openalex.org/keywords/classifiers","display_name":"machine learning classifiers","score":0.675000011920929},{"id":"https://openalex.org/keywords/histomorphology","display_name":"histomorphology","score":0.6970000267028809}],"concepts":[{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.7949432730674744},{"id":"https://openalex.org/C187191949","wikidata":"https://www.wikidata.org/wiki/Q1138496","display_name":"Profiling (computer programming)","level":2,"score":0.5543981194496155},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.4865990877151489},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48431530594825745},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.47581058740615845},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4525850713253021},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3408193588256836},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.3350626826286316},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.1551308035850525},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.15177485346794128},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14629033207893372},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.1000748872756958},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000074141","descriptor_name":"Circulating Tumor DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014408","descriptor_name":"Biomarkers, Tumor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1146/annurev-pathol-042220-022304","doi":"https://doi.org/10.1146/annurev-pathol-042220-022304","is_oa":false,"landing_page_url":"https://doi.org/10.1146/annurev-pathol-042220-022304","pdf_url":null,"source":{"id":"https://openalex.org/S188288600","display_name":"Annual Review of Pathology Mechanisms of Disease","issn_l":"1553-4006","issn":["1553-4006","1553-4014"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","medline","norway-1","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320373","host_organization_name":"Annual Reviews","host_organization_lineage":["https://openalex.org/P4310320373"],"host_organization_lineage_names":["Annual Reviews"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annual Review of Pathology: Mechanisms of Disease","raw_type":"journal-article"},{"id":"pmid:34736341","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34736341","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":"Annual review of pathology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":138,"referenced_works":["https://openalex.org/W111616551","https://openalex.org/W848101669","https://openalex.org/W1572264474","https://openalex.org/W1869160040","https://openalex.org/W1904194784","https://openalex.org/W1928158719","https://openalex.org/W1949037014","https://openalex.org/W1968263601","https://openalex.org/W1969720359","https://openalex.org/W1970833628","https://openalex.org/W1977706798","https://openalex.org/W1979273476","https://openalex.org/W1981045578","https://openalex.org/W1982356313","https://openalex.org/W1986105529","https://openalex.org/W1988756388","https://openalex.org/W1994465394","https://openalex.org/W1996908572","https://openalex.org/W1998220759","https://openalex.org/W2008284862","https://openalex.org/W2010338407","https://openalex.org/W2010991736","https://openalex.org/W2029874395","https://openalex.org/W2034066784","https://openalex.org/W2036885749","https://openalex.org/W2041440766","https://openalex.org/W2046509449","https://openalex.org/W2051974123","https://openalex.org/W2055986128","https://openalex.org/W2056040742","https://openalex.org/W2057029910","https://openalex.org/W2060446375","https://openalex.org/W2061731645","https://openalex.org/W2097531668","https://openalex.org/W2098785952","https://openalex.org/W2101262547","https://openalex.org/W2104429441","https://openalex.org/W2105528101","https://openalex.org/W2106482095","https://openalex.org/W2107007091","https://openalex.org/W2111867681","https://openalex.org/W2113432767","https://openalex.org/W2120872266","https://openalex.org/W2121417064","https://openalex.org/W2122404743","https://openalex.org/W2126738508","https://openalex.org/W2127643721","https://openalex.org/W2128146359","https://openalex.org/W2129976040","https://openalex.org/W2137505881","https://openalex.org/W2139015332","https://openalex.org/W2140048538","https://openalex.org/W2141713919","https://openalex.org/W2143450527","https://openalex.org/W2145489645","https://openalex.org/W2148405421","https://openalex.org/W2160234594","https://openalex.org/W2161112598","https://openalex.org/W2163125553","https://openalex.org/W2163327652","https://openalex.org/W2169903102","https://openalex.org/W2206368938","https://openalex.org/W2216554257","https://openalex.org/W2262414037","https://openalex.org/W2270206867","https://openalex.org/W2286322195","https://openalex.org/W2286341552","https://openalex.org/W2328946792","https://openalex.org/W2329888282","https://openalex.org/W2335012284","https://openalex.org/W2337433062","https://openalex.org/W2338116242","https://openalex.org/W2341128841","https://openalex.org/W2392819176","https://openalex.org/W2411664918","https://openalex.org/W2460673340","https://openalex.org/W2570579929","https://openalex.org/W2575837388","https://openalex.org/W2580077891","https://openalex.org/W2595991414","https://openalex.org/W2598133926","https://openalex.org/W2602657459","https://openalex.org/W2618958001","https://openalex.org/W2625559053","https://openalex.org/W2737623654","https://openalex.org/W2743921188","https://openalex.org/W2745658163","https://openalex.org/W2746058314","https://openalex.org/W2760996957","https://openalex.org/W2763192238","https://openalex.org/W2767187153","https://openalex.org/W2781062741","https://openalex.org/W2787816121","https://openalex.org/W2793833695","https://openalex.org/W2803972431","https://openalex.org/W2806514631","https://openalex.org/W2807733000","https://openalex.org/W2811036728","https://openalex.org/W2893900594","https://openalex.org/W2894102714","https://openalex.org/W2894158895","https://openalex.org/W2902652978","https://openalex.org/W2903465659","https://openalex.org/W2909959109","https://openalex.org/W2911565158","https://openalex.org/W2911576431","https://openalex.org/W2911964244","https://openalex.org/W2922989235","https://openalex.org/W2922989408","https://openalex.org/W2948500453","https://openalex.org/W2950911467","https://openalex.org/W2952439923","https://openalex.org/W2955510677","https://openalex.org/W2957423565","https://openalex.org/W2961404751","https://openalex.org/W2963749735","https://openalex.org/W2970087737","https://openalex.org/W2972589700","https://openalex.org/W2975253127","https://openalex.org/W2983348681","https://openalex.org/W2985435545","https://openalex.org/W2990223092","https://openalex.org/W2990357601","https://openalex.org/W2994318978","https://openalex.org/W2996723520","https://openalex.org/W2999850615","https://openalex.org/W3008367733","https://openalex.org/W3013924915","https://openalex.org/W3036877126","https://openalex.org/W3048230500","https://openalex.org/W3081686982","https://openalex.org/W3086847472","https://openalex.org/W3112590422","https://openalex.org/W3117079035","https://openalex.org/W3122927608","https://openalex.org/W4294358748","https://openalex.org/W4298025629","https://openalex.org/W7221143472"],"related_works":["https://openalex.org/W4417479443","https://openalex.org/W4224005229","https://openalex.org/W7135385628","https://openalex.org/W4385189071","https://openalex.org/W6930011147","https://openalex.org/W7163925479","https://openalex.org/W3024840842","https://openalex.org/W3003992407","https://openalex.org/W2740290352","https://openalex.org/W3211073374"],"abstract_inverted_index":{"Histomorphology":[0],"has":[1,46,68],"been":[2],"a":[3,135,140],"mainstay":[4],"of":[5,31,36,51,73,79,142],"cancer":[6,111,136],"diagnosis":[7],"in":[8,40,56,93,101],"anatomic":[9],"pathology":[10],"for":[11,48,108],"many":[12],"years.":[13],"DNA":[14,37,65,98,104],"methylation":[15,38,66,99,123],"profiling":[16,67,124],"is":[17,125],"an":[18,26],"additional":[19],"emerging":[20],"tool":[21,138],"that":[22,118],"will":[23,89,130],"serve":[24],"as":[25,134],"adjunct":[27],"to":[28,70,127],"increase":[29],"accuracy":[30],"pathological":[32],"diagnosis.":[33],"Genome-wide":[34],"interrogation":[35],"signatures,":[39],"conjunction":[41],"with":[42],"machine":[43],"learning":[44],"methods,":[45],"allowed":[47],"the":[49,71,77,94],"creation":[50],"clinical-grade":[52],"classifiers,":[53],"most":[54],"prominently":[55],"central":[57],"nervous":[58],"system":[59],"and":[60,76,87,113,129],"soft":[61],"tissue":[62],"tumors.":[63],"Tumor":[64],"led":[69],"identification":[72],"new":[74,121],"entities":[75],"consolidation":[78],"morphologically":[80],"disparate":[81],"cancers":[82],"into":[83],"biologically":[84],"coherent":[85],"entities,":[86],"it":[88],"progressively":[90],"become":[91,131],"mainstream":[92],"future.":[95],"In":[96],"addition,":[97],"patterns":[100],"circulating":[102],"tumor":[103,143],"hold":[105],"great":[106],"promise":[107],"minimally":[109],"invasive":[110],"detection":[112],"classification.":[114],"Despite":[115],"practical":[116],"challenges":[117],"accompany":[119],"any":[120],"technology,":[122],"here":[126],"stay":[128],"increasingly":[132],"utilized":[133],"diagnostic":[137],"across":[139],"range":[141],"types.":[144]},"counts_by_year":[{"year":2026,"cited_by_count":60},{"year":2025,"cited_by_count":68},{"year":2024,"cited_by_count":79},{"year":2023,"cited_by_count":55},{"year":2022,"cited_by_count":20},{"year":2021,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2021-11-08T00:00:00"}
