{"id":"https://openalex.org/W2255280474","doi":null,"title":"Assessment of Alignment Algorithms, Variant Discovery and Genotype Calling Strategies in Exome Sequencing Data","display_name":"Assessment of Alignment Algorithms, Variant Discovery and Genotype Calling Strategies in Exome Sequencing Data","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W2255280474","mag":"2255280474"},"language":"en","primary_location":{"id":"pmh:oai:repository.rit.edu:theses-10039","doi":null,"is_oa":false,"landing_page_url":"https://repository.rit.edu/theses/8892","pdf_url":null,"source":{"id":"https://openalex.org/S4306402456","display_name":"RIT Scholar Works (Rochester Institute of Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155173764","host_organization_name":"Rochester Institute of Technology","host_organization_lineage":["https://openalex.org/I155173764"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Theses","raw_type":"text"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"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/A5081842855","display_name":"Anthony M. Corbett","orcid":"https://orcid.org/0000-0001-9545-0853","observed_orcids":["https://orcid.org/0000-0001-9545-0853"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Anthony Corbett","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9545-0853","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5081842855"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.8339999914169312,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.8339999914169312,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.16279999911785126,"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/T13937","display_name":"Genetics, Bioinformatics, and Biomedical Research","score":0.00039999998989515007,"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/variant-calling","display_name":"variant calling","score":0.8379999995231628},{"id":"https://openalex.org/keywords/genotype-calling","display_name":"genotype calling","score":0.9900000095367432},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.8960000276565552},{"id":"https://openalex.org/keywords/genome-in-a-bottle","display_name":"Genome in a Bottle","score":0.7770000100135803},{"id":"https://openalex.org/keywords/grch37","display_name":"GRCh37","score":0.7379999756813049},{"id":"https://openalex.org/keywords/grch38","display_name":"GRCh38","score":0.984000027179718}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7180208563804626},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6518869996070862},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5494911670684814},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.5369526743888855},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5224948525428772},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.44648081064224243},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.43623876571655273},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.42261889576911926},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.4149352014064789},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.4126843214035034},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3906143307685852},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2500011920928955},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1860543191432953},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.18025320768356323},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.13748699426651},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0937933623790741},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:repository.rit.edu:theses-10039","doi":null,"is_oa":false,"landing_page_url":"https://repository.rit.edu/theses/8892","pdf_url":null,"source":{"id":"https://openalex.org/S4306402456","display_name":"RIT Scholar Works (Rochester Institute of Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155173764","host_organization_name":"Rochester Institute of Technology","host_organization_lineage":["https://openalex.org/I155173764"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Theses","raw_type":"text"},{"id":"pmh:oai:scholarworks.rit.edu:theses-10039","doi":null,"is_oa":false,"landing_page_url":"https://scholarworks.rit.edu/cgi/viewcontent.cgi?article=10039&context=theses","pdf_url":null,"source":{"id":"https://openalex.org/S4306402456","display_name":"RIT Scholar Works (Rochester Institute of Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155173764","host_organization_name":"Rochester Institute of Technology","host_organization_lineage":["https://openalex.org/I155173764"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Theses","raw_type":"text"},{"id":"mag:2255280474","doi":null,"is_oa":false,"landing_page_url":"https://scholarworks.rit.edu/cgi/viewcontent.cgi?article=10039&context=theses","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":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":45,"referenced_works":["https://openalex.org/W1596062789","https://openalex.org/W1919257374","https://openalex.org/W1964477845","https://openalex.org/W1971584645","https://openalex.org/W1982236424","https://openalex.org/W2009570821","https://openalex.org/W2010361633","https://openalex.org/W2011941471","https://openalex.org/W2055043387","https://openalex.org/W2057791956","https://openalex.org/W2060965924","https://openalex.org/W2061596350","https://openalex.org/W2087064593","https://openalex.org/W2088101922","https://openalex.org/W2091705028","https://openalex.org/W2093931624","https://openalex.org/W2095680943","https://openalex.org/W2098746581","https://openalex.org/W2103441770","https://openalex.org/W2103811075","https://openalex.org/W2105035271","https://openalex.org/W2105708056","https://openalex.org/W2108472899","https://openalex.org/W2110171180","https://openalex.org/W2112113834","https://openalex.org/W2118256706","https://openalex.org/W2119180969","https://openalex.org/W2124465358","https://openalex.org/W2124535406","https://openalex.org/W2124985265","https://openalex.org/W2128591967","https://openalex.org/W2136145671","https://openalex.org/W2140154634","https://openalex.org/W2143110620","https://openalex.org/W2143602768","https://openalex.org/W2146472631","https://openalex.org/W2147733682","https://openalex.org/W2150131459","https://openalex.org/W2153527981","https://openalex.org/W2153805608","https://openalex.org/W2158714788","https://openalex.org/W2161488606","https://openalex.org/W2168133698","https://openalex.org/W2170551349","https://openalex.org/W2187503591"],"related_works":["https://openalex.org/W7099799416","https://openalex.org/W2158336776","https://openalex.org/W7000971473","https://openalex.org/W2190569576","https://openalex.org/W2051295851","https://openalex.org/W2173033037","https://openalex.org/W4285024002","https://openalex.org/W2050109119","https://openalex.org/W4385516821","https://openalex.org/W4225764874"],"abstract_inverted_index":{"Advances":[0],"in":[1,7,122,148],"next":[2],"generation":[3],"sequencing":[4,76,129],"(NGS)":[5],"technologies,":[6],"the":[8,47,67,70,89,97,108,138,146,159,166],"past":[9],"half":[10],"decade,":[11],"have":[12,19],"enabled":[13],"many":[14],"novel":[15],"genomic":[16],"applications":[17],"and":[18,44,50,61,65,91,96,120,143,145,157,168],"generated":[20],"unprecedented":[21],"amounts":[22],"of":[23,69,93,110,141,162],"new":[24],"knowledge":[25],"that":[26],"is":[27,33,152],"quickly":[28],"changing":[29],"how":[30,39],"biomedical":[31],"research":[32,81],"being":[34,59,79],"conducted,":[35],"as":[36,75],"well":[37],"as,":[38],"we":[40],"view":[41],"human":[42,170],"diseases":[43],"diversity.":[45],"As":[46],"methods,":[48],"algorithms":[49],"software":[51],"used":[52,154],"to":[53,106],"process":[54],"NGS":[55],"data":[56],"are":[57],"constantly":[58],"developed":[60],"improved,":[62],"performing":[63],"analysis":[64],"determining":[66],"validity":[68],"results":[71,98],"become":[72],"complex.":[73],"Moreover,":[74],"moves":[77],"from":[78,137],"a":[80,84,123,149],"tool":[82,87],"into":[83],"clinical":[85],"diagnostic":[86],"understanding":[88],"performance":[90,109,161],"limitations":[92],"bioinformatics":[94,112],"pipelines":[95,113],"they":[99],"produce":[100],"becomes":[101],"imperative.":[102],"This":[103],"thesis":[104],"aims":[105],"assess":[107],"nine":[111],"for":[114,155],"sequence":[115],"read":[116],"alignment,":[117],"variant":[118,134],"calling":[119],"genotyping":[121],"Mendelian":[124],"inherited":[125],"disease,":[126],"parent-trio":[127],"exome":[128],"design.":[130],"A":[131],"well-characterized":[132],"reference":[133],"call":[135],"set":[136],"National":[139],"Institute":[140],"Standards":[142],"Technology":[144],"Genome":[147],"Bottle":[150],"Consortium":[151],"be":[153],"producing":[156],"comparing":[158],"analytical":[160],"each":[163],"pipeline":[164],"on":[165],"GRCh37":[167],"GRCh38":[169],"references.":[171]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
