{"id":"https://openalex.org/W107542328","doi":"https://doi.org/10.1007/s13631-014-0066-y","title":"Short history of the \u201cGenomic Revolution\u201d and implication for neurological institutes","display_name":"Short history of the \u201cGenomic Revolution\u201d and implication for neurological institutes","publication_year":2014,"publication_date":"2014-10-30","ids":{"openalex":"https://openalex.org/W107542328","doi":"https://doi.org/10.1007/s13631-014-0066-y","mag":"107542328"},"language":"en","primary_location":{"id":"doi:10.1007/s13631-014-0066-y","doi":"https://doi.org/10.1007/s13631-014-0066-y","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s13631-014-0066-y","pdf_url":null,"source":{"id":"https://openalex.org/S4210223908","display_name":"La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine","issn_l":"1825-859X","issn":["1825-859X","2039-6821"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5086715729","display_name":"Stefano Gambardella","orcid":"https://orcid.org/0000-0002-3727-4502","observed_orcids":["https://orcid.org/0000-0002-3727-4502"]},"institutions":[{"id":"https://openalex.org/I3018288129","display_name":"Istituto Neurologico Mediterraneo","ror":"https://ror.org/00cpb6264","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018288129","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Stefano Gambardella","raw_affiliation_strings":["IRCCS Neuromed, Pozzilli, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Neuromed, Pozzilli, Italia","institution_ids":["https://openalex.org/I3018288129"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014194163","display_name":"Veronica Albano","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018288129","display_name":"Istituto Neurologico Mediterraneo","ror":"https://ror.org/00cpb6264","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018288129","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Veronica Albano","raw_affiliation_strings":["IRCCS Neuromed, Pozzilli, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Neuromed, Pozzilli, Italia","institution_ids":["https://openalex.org/I3018288129"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042568203","display_name":"Rosa Campopiano","orcid":"https://orcid.org/0000-0002-7400-742X","observed_orcids":["https://orcid.org/0000-0002-7400-742X"]},"institutions":[{"id":"https://openalex.org/I3018288129","display_name":"Istituto Neurologico Mediterraneo","ror":"https://ror.org/00cpb6264","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018288129","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Rosa Campopiano","raw_affiliation_strings":["IRCCS Neuromed, Pozzilli, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Neuromed, Pozzilli, Italia","institution_ids":["https://openalex.org/I3018288129"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029383304","display_name":"Rosangela Ferese","orcid":"https://orcid.org/0000-0001-8899-0309","observed_orcids":["https://orcid.org/0000-0001-8899-0309"]},"institutions":[{"id":"https://openalex.org/I3018288129","display_name":"Istituto Neurologico Mediterraneo","ror":"https://ror.org/00cpb6264","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018288129","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Rosangela Ferese","raw_affiliation_strings":["IRCCS Neuromed, Pozzilli, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Neuromed, Pozzilli, Italia","institution_ids":["https://openalex.org/I3018288129"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012577563","display_name":"Simona Scala","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018288129","display_name":"Istituto Neurologico Mediterraneo","ror":"https://ror.org/00cpb6264","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018288129","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Simona Scala","raw_affiliation_strings":["IRCCS Neuromed, Pozzilli, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Neuromed, Pozzilli, Italia","institution_ids":["https://openalex.org/I3018288129"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054280307","display_name":"Marianna Storto","orcid":"https://orcid.org/0000-0002-0159-7449","observed_orcids":["https://orcid.org/0000-0002-0159-7449"]},"institutions":[{"id":"https://openalex.org/I3018288129","display_name":"Istituto Neurologico Mediterraneo","ror":"https://ror.org/00cpb6264","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018288129","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Marianna Storto","raw_affiliation_strings":["IRCCS Neuromed, Pozzilli, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Neuromed, Pozzilli, Italia","institution_ids":["https://openalex.org/I3018288129"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039385142","display_name":"Stefania Zampatti","orcid":"https://orcid.org/0000-0003-2502-7157","observed_orcids":["https://orcid.org/0000-0003-2502-7157"]},"institutions":[{"id":"https://openalex.org/I3018288129","display_name":"Istituto Neurologico Mediterraneo","ror":"https://ror.org/00cpb6264","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018288129","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Stefania Zampatti","raw_affiliation_strings":["IRCCS Neuromed, Pozzilli, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Neuromed, Pozzilli, Italia","institution_ids":["https://openalex.org/I3018288129"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001750719","display_name":"Edoardo Romoli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018288129","display_name":"Istituto Neurologico Mediterraneo","ror":"https://ror.org/00cpb6264","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018288129","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Edoardo Romoli","raw_affiliation_strings":["IRCCS Neuromed, Pozzilli, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Neuromed, Pozzilli, Italia","institution_ids":["https://openalex.org/I3018288129"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5086715729"],"corresponding_institution_ids":["https://openalex.org/I3018288129"],"apc_list":{"value":3140,"currency":"USD","value_usd":3140},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00553031,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"11","issue":"1","first_page":"1","last_page":"13"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8726000189781189,"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":0.8726000189781189,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.11289999634027481,"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/T13937","display_name":"Genetics, Bioinformatics, and Biomedical Research","score":0.0017000000225380063,"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/genomic-revolution","display_name":"genomic revolution","score":0.9010000228881836},{"id":"https://openalex.org/keywords/next-generation-sequencing","display_name":"next-generation sequencing","score":0.8100000023841858},{"id":"https://openalex.org/keywords/sanger-sequencing","display_name":"Sanger sequencing","score":0.7749999761581421},{"id":"https://openalex.org/keywords/shotgun-sequencing","display_name":"shotgun sequencing","score":0.9850000143051147},{"id":"https://openalex.org/keywords/human-genome-project","display_name":"Human Genome Project","score":0.9509999752044678},{"id":"https://openalex.org/keywords/neurological-disorders","display_name":"neurological disorders","score":0.5720000267028809},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.9559999704360962},{"id":"https://openalex.org/keywords/genetic-analysis","display_name":"genetic analysis","score":0.3889999985694885},{"id":"https://openalex.org/keywords/clinical-molecular-diagnostics","display_name":"clinical molecular diagnostics","score":0.531000018119812}],"concepts":[{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.724190354347229},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.7229586839675903},{"id":"https://openalex.org/C101985253","wikidata":"https://www.wikidata.org/wiki/Q1073526","display_name":"Shotgun sequencing","level":4,"score":0.6714953780174255},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.6250358819961548},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5650615692138672},{"id":"https://openalex.org/C24103923","wikidata":"https://www.wikidata.org/wiki/Q7170583","display_name":"Personal genomics","level":5,"score":0.5217945575714111},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5123652219772339},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.49405744671821594},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4840952157974243},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.46911266446113586},{"id":"https://openalex.org/C205270622","wikidata":"https://www.wikidata.org/wiki/Q17082639","display_name":"Cancer genome sequencing","level":5,"score":0.459480881690979},{"id":"https://openalex.org/C192800701","wikidata":"https://www.wikidata.org/wiki/Q6784807","display_name":"Massive parallel sequencing","level":4,"score":0.4582973122596741},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4041234254837036},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3840472996234894},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.16699844598770142}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1007/s13631-014-0066-y","doi":"https://doi.org/10.1007/s13631-014-0066-y","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s13631-014-0066-y","pdf_url":null,"source":{"id":"https://openalex.org/S4210223908","display_name":"La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine","issn_l":"1825-859X","issn":["1825-859X","2039-6821"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine","raw_type":"journal-article"},{"id":"mag:2588810689","doi":null,"is_oa":false,"landing_page_url":"https://link.springer.com/article/10.1007/s13631-014-0066-y","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8999999761581421}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":120,"referenced_works":["https://openalex.org/W1174713227","https://openalex.org/W1527632333","https://openalex.org/W1534022291","https://openalex.org/W1554372034","https://openalex.org/W1569803753","https://openalex.org/W1572519591","https://openalex.org/W1607792569","https://openalex.org/W1789824814","https://openalex.org/W1851713763","https://openalex.org/W1965759164","https://openalex.org/W1971541955","https://openalex.org/W1972844230","https://openalex.org/W1978136660","https://openalex.org/W1980171391","https://openalex.org/W1985225215","https://openalex.org/W1985849948","https://openalex.org/W1985877093","https://openalex.org/W1988676851","https://openalex.org/W1990601349","https://openalex.org/W1995839968","https://openalex.org/W1998120162","https://openalex.org/W2001544293","https://openalex.org/W2004209173","https://openalex.org/W2005129098","https://openalex.org/W2010378709","https://openalex.org/W2010437214","https://openalex.org/W2010498181","https://openalex.org/W2012254260","https://openalex.org/W2016082167","https://openalex.org/W2025143098","https://openalex.org/W2025197615","https://openalex.org/W2027771921","https://openalex.org/W2028715185","https://openalex.org/W2032039529","https://openalex.org/W2032247293","https://openalex.org/W2033409266","https://openalex.org/W2035310463","https://openalex.org/W2036210716","https://openalex.org/W2036632755","https://openalex.org/W2038803187","https://openalex.org/W2045037802","https://openalex.org/W2049902892","https://openalex.org/W2054153086","https://openalex.org/W2065604182","https://openalex.org/W2066599825","https://openalex.org/W2066669827","https://openalex.org/W2070857930","https://openalex.org/W2072698534","https://openalex.org/W2085303293","https://openalex.org/W2085943260","https://openalex.org/W2086840280","https://openalex.org/W2088550308","https://openalex.org/W2089378839","https://openalex.org/W2090705041","https://openalex.org/W2091306505","https://openalex.org/W2092768543","https://openalex.org/W2092784580","https://openalex.org/W2096791704","https://openalex.org/W2097103181","https://openalex.org/W2097209446","https://openalex.org/W2097247977","https://openalex.org/W2098207011","https://openalex.org/W2099154089","https://openalex.org/W2099275034","https://openalex.org/W2102266861","https://openalex.org/W2102718552","https://openalex.org/W2102942667","https://openalex.org/W2106914804","https://openalex.org/W2112150247","https://openalex.org/W2112182958","https://openalex.org/W2113649367","https://openalex.org/W2113784410","https://openalex.org/W2116304562","https://openalex.org/W2118268786","https://openalex.org/W2118526609","https://openalex.org/W2120451046","https://openalex.org/W2121433602","https://openalex.org/W2123466824","https://openalex.org/W2123690188","https://openalex.org/W2124259172","https://openalex.org/W2124495196","https://openalex.org/W2127230663","https://openalex.org/W2128114769","https://openalex.org/W2131861979","https://openalex.org/W2133685977","https://openalex.org/W2137422676","https://openalex.org/W2139455449","https://openalex.org/W2139747296","https://openalex.org/W2140055542","https://openalex.org/W2140653050","https://openalex.org/W2142642738","https://openalex.org/W2143602768","https://openalex.org/W2143905668","https://openalex.org/W2147905647","https://openalex.org/W2148095347","https://openalex.org/W2151394983","https://openalex.org/W2153298670","https://openalex.org/W2156220037","https://openalex.org/W2161188902","https://openalex.org/W2162370352","https://openalex.org/W2162642612","https://openalex.org/W2162647412","https://openalex.org/W2163415691","https://openalex.org/W2165884492","https://openalex.org/W2168909179","https://openalex.org/W2169276524","https://openalex.org/W2171307655","https://openalex.org/W2171777347","https://openalex.org/W2187181884","https://openalex.org/W2217809488","https://openalex.org/W2312275210","https://openalex.org/W2885727518","https://openalex.org/W4238251256","https://openalex.org/W4239594659","https://openalex.org/W4249825849","https://openalex.org/W4254737279","https://openalex.org/W4256101427","https://openalex.org/W4285719527","https://openalex.org/W4300196896","https://openalex.org/W4403252750"],"related_works":["https://openalex.org/W2265694185","https://openalex.org/W2938156108","https://openalex.org/W3153889559","https://openalex.org/W2975746584","https://openalex.org/W2274289534","https://openalex.org/W2554600107","https://openalex.org/W2343109370","https://openalex.org/W2558202273","https://openalex.org/W4238881906","https://openalex.org/W2077605221"],"abstract_inverted_index":{"The":[0],"\u201coriginal\u201d":[1],"DNA":[2,111],"sequencing":[3,30,35,61,88,97],"methodology":[4],"is":[5,114,154],"the":[6,36,41,47,51,57,71,80,96,103,108,143,214,217,235],"Sanger":[7],"method,":[8],"which":[9],"has":[10,31,55,173,223],"excellent":[11],"accuracy":[12],"and":[13,105,190,209,227],"reasonable":[14],"read":[15],"length":[16],"but":[17],"very":[18,115],"low":[19],"throughput.":[20],"In":[21],"order":[22],"to":[23,63,101,106,121,142,200,229],"sequence":[24],"longer":[25],"sections":[26],"of":[27,50,60,74,110,126,149,159,179,194,205,216,238],"DNA,":[28],"shotgun":[29],"been":[32,85,174,224],"introduced":[33,86],"for":[34,76,234],"entire":[37],"human":[38,53,67,77],"genome":[39,54],"in":[40,79,117,130,176,185,220],"Human":[42],"Genome":[43],"Project":[44],"(HGP).":[45],"Unfortunately,":[46],"formidable":[48],"size":[49],"diploid":[52],"prevented":[56],"routine":[58],"application":[59],"methods":[62],"deciphering":[64],"complete":[65],"individual":[66],"genomes.":[68],"To":[69],"realize":[70],"full":[72],"potential":[73],"genomics":[75],"health,":[78],"last":[81],"ten":[82],"years":[83],"have":[84],"high-throughput":[87],"(or":[89],"Next-Generation":[90],"Sequencing,":[91],"NGS)":[92],"technologies":[93],"that":[94,219],"parallelizing":[95],"process,":[98],"are":[99,128,188],"able":[100],"improve":[102],"throughput":[104],"lower":[107],"cost":[109],"sequencing.":[112],"NGS":[113,196],"important,":[116],"particular":[118],"if":[119],"applied":[120],"neurological":[122,180,240],"disease.":[123],"This":[124],"kind":[125],"disorders":[127,162],"complex":[129,189],"various":[131],"ways;":[132],"multiple":[133],"risk":[134],"factors,":[135],"environmental":[136],"as":[137,139],"well":[138],"genetic,":[140],"contribute":[141],"disorder":[144],"individually":[145],"or":[146,167],"by":[147,163,168],"means":[148],"interaction.":[150],"Also":[151],"genetic":[152,156,165,183],"component":[153],"complex:":[155],"heterogeneity":[157],"(production":[158],"apparently":[160],"identical":[161],"different":[164,171],"mechanisms":[166],"genes":[169,203],"at":[170],"loci)":[172],"described":[175],"a":[177,192,206,239],"lot":[178,193],"disorders.":[181],"Therefore":[182],"analysis":[184],"this":[186,221],"field":[187],"require":[191],"time.":[195],"approaches":[197],"will":[198],"allow":[199],"scan":[201],"several":[202],"responsible":[204],"pathology,":[207],"faster":[208],"cheaper":[210],"than":[211],"ever,":[212],"improving":[213],"quality":[215],"process":[218],"year":[222],"too":[225],"slow":[226],"expensive":[228],"produce":[230],"molecular":[231],"information":[232],"useful":[233],"clinical":[236],"management":[237],"patient.":[241]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}