{"id":"https://openalex.org/W2969110067","doi":"https://doi.org/10.1109/memea.2019.8802182","title":"Predicting Novel and Inherited Variants in Parent-Child Trios","display_name":"Predicting Novel and Inherited Variants in Parent-Child Trios","publication_year":2019,"publication_date":"2019-06-01","ids":{"openalex":"https://openalex.org/W2969110067","doi":"https://doi.org/10.1109/memea.2019.8802182","mag":"2969110067"},"language":"en","primary_location":{"id":"doi:10.1109/memea.2019.8802182","is_oa":false,"landing_page_url":"https://doi.org/10.1109/memea.2019.8802182","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2019 IEEE International Symposium on Medical Measurements and Applications (MeMeA)","raw_type":"proceedings-article"},"type":"article","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/A5045718155","display_name":"Melissa Spence","orcid":null},"institutions":[{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Melissa Spence","raw_affiliation_strings":["Department of Applied Mathematics, University of California, Merced Merced, USA"],"affiliations":[{"raw_affiliation_string":"Department of Applied Mathematics, University of California, Merced Merced, USA","institution_ids":["https://openalex.org/I156087764"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082681242","display_name":"Mario Ba\u00f1uelos","orcid":null},"institutions":[{"id":"https://openalex.org/I67328108","display_name":"California State University, Fresno","ror":"https://ror.org/03enmdz06","country_code":"US","type":"education","lineage":["https://openalex.org/I67328108"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mario Banuelos","raw_affiliation_strings":["Department of Mathematics, California State University, Fresno Fresno, USA"],"affiliations":[{"raw_affiliation_string":"Department of Mathematics, California State University, Fresno Fresno, USA","institution_ids":["https://openalex.org/I67328108"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005703929","display_name":"Roummel F. Marcia","orcid":"https://orcid.org/0000-0001-6838-140X"},"institutions":[{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Roummel F. Marcia","raw_affiliation_strings":["Department of Applied Mathematics, University of California, Merced Merced, USA"],"affiliations":[{"raw_affiliation_string":"Department of Applied Mathematics, University of California, Merced Merced, USA","institution_ids":["https://openalex.org/I156087764"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027970835","display_name":"Suzanne Sindi","orcid":"https://orcid.org/0000-0003-2742-4332"},"institutions":[{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Suzanne Sindi","raw_affiliation_strings":["Department of Applied Mathematics, University of California, Merced Merced, USA"],"affiliations":[{"raw_affiliation_string":"Department of Applied Mathematics, University of California, Merced Merced, USA","institution_ids":["https://openalex.org/I156087764"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5045718155"],"corresponding_institution_ids":["https://openalex.org/I156087764"],"apc_list":null,"apc_paid":null,"fwci":0.1786,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.6312925,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":null,"issue":null,"first_page":"1","last_page":"6"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9994999766349792,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9994999766349792,"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":0.9986000061035156,"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/T10434","display_name":"Chromosomal and Genetic Variations","score":0.9966999888420105,"subfield":{"id":"https://openalex.org/subfields/1110","display_name":"Plant Science"},"field":{"id":"https://openalex.org/fields/11","display_name":"Agricultural and Biological Sciences"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.7610294818878174},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5762329697608948},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.5544925928115845},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5517966151237488},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.48926016688346863},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.4834898114204407},{"id":"https://openalex.org/keywords/structural-variation","display_name":"Structural variation","score":0.4590770900249481},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.4505994915962219},{"id":"https://openalex.org/keywords/variation","display_name":"Variation (astronomy)","score":0.410236120223999},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.38683560490608215},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.29989349842071533},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.17824599146842957},{"id":"https://openalex.org/keywords/physics","display_name":"Physics","score":0.07947215437889099},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.07306239008903503}],"concepts":[{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.7610294818878174},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5762329697608948},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.5544925928115845},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5517966151237488},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48926016688346863},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4834898114204407},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.4590770900249481},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4505994915962219},{"id":"https://openalex.org/C2778334786","wikidata":"https://www.wikidata.org/wiki/Q1586270","display_name":"Variation (astronomy)","level":2,"score":0.410236120223999},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.38683560490608215},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29989349842071533},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.17824599146842957},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.07947215437889099},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.07306239008903503},{"id":"https://openalex.org/C44870925","wikidata":"https://www.wikidata.org/wiki/Q37547","display_name":"Astrophysics","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/memea.2019.8802182","is_oa":false,"landing_page_url":"https://doi.org/10.1109/memea.2019.8802182","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2019 IEEE International Symposium on Medical Measurements and Applications (MeMeA)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/16","display_name":"Peace, Justice and strong institutions","score":0.46000000834465027}],"awards":[],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W1908181904","https://openalex.org/W1973067702","https://openalex.org/W2041205258","https://openalex.org/W2046601740","https://openalex.org/W2050892949","https://openalex.org/W2083870688","https://openalex.org/W2094608047","https://openalex.org/W2096791516","https://openalex.org/W2103011829","https://openalex.org/W2109465247","https://openalex.org/W2118067630","https://openalex.org/W2129016996","https://openalex.org/W2132074759","https://openalex.org/W2133112449","https://openalex.org/W2161815151","https://openalex.org/W2162212014","https://openalex.org/W2166657289","https://openalex.org/W2171777347","https://openalex.org/W2204695746","https://openalex.org/W2400919359","https://openalex.org/W2512642942","https://openalex.org/W2535543414","https://openalex.org/W2603144853","https://openalex.org/W2613868166","https://openalex.org/W2737819809","https://openalex.org/W2913878444","https://openalex.org/W3106237033"],"related_works":["https://openalex.org/W1912672559","https://openalex.org/W2153994884","https://openalex.org/W2756518443","https://openalex.org/W2557610530","https://openalex.org/W2337513885","https://openalex.org/W2949062400","https://openalex.org/W2195031595","https://openalex.org/W2056571985","https://openalex.org/W2138189131","https://openalex.org/W3130788486"],"abstract_inverted_index":{"Genomic":[0],"variation":[1,32],"shared":[2],"by":[3,139,164],"members":[4],"of":[5,31,45,57,91,125],"the":[6,53,81,123,165,177,197,216],"same":[7],"species":[8],"that":[9,120],"are":[10,16],"longer":[11],"than":[12],"a":[13,60,64,149],"single":[14],"nucleotide":[15],"commonly":[17],"called":[18],"structural":[19],"variants":[20,162,182],"(SVs).":[21],"Though":[22],"relatively":[23],"rare,":[24],"they":[25],"represent":[26],"an":[27,187],"increasingly":[28],"important":[29],"class":[30],"as":[33,209,211],"SVs":[34,69,104,138,144,195],"have":[35,115,158],"been":[36],"associated":[37],"with":[38,73],"diseases":[39],"and":[40,55,83,131],"susceptibility":[41],"to":[42,49,63,71,175,179],"some":[43],"types":[44],"cancer.":[46],"Common":[47],"approaches":[48,134,174],"SV":[50,117],"detection":[51,118],"require":[52],"sequencing":[54,82,98],"mapping":[56,84],"fragments":[58,72],"from":[59,105,148,215],"test":[61],"genome":[62,147],"high-quality":[65],"reference":[66],"genome.":[67],"Candidate":[68],"correspond":[70],"discordant":[74,88],"mapped":[75],"configurations,":[76],"but":[77,183],"because":[78],"errors":[79,106],"in":[80,145,152,196],"will":[85,94],"also":[86],"create":[87],"arrangements,":[89],"many":[90],"these":[92],"predictions":[93],"be":[95,200],"false.":[96],"When":[97],"coverage":[99],"is":[100,107],"low,":[101],"distinguishing":[102],"true":[103,160],"even":[108],"more":[109],"complicated.":[110],"In":[111,167],"recent":[112],"work,":[113,169],"we":[114,170],"developed":[116],"methods":[119],"simultaneously":[121],"consider":[122],"genomes":[124,208],"closely":[126],"related":[127],"individuals":[128],"-":[129],"parents":[130],"children.":[132],"Our":[133],"control":[135],"false":[136],"positive":[137],"requiring":[140],"children":[141],"inherit":[142],"all":[143],"their":[146],"parent.":[150],"However,":[151],"doing":[153],"so,":[154],"our":[155,172],"models":[156],"may":[157],"missed":[159],"novel":[161,181,194],"acquired":[163],"child.":[166],"this":[168],"generalize":[171],"previous":[173],"allow":[176],"child":[178,198],"carry":[180],"enforce":[184],"sparsity":[185],"through":[186],"\u2113":[188],"<sub":[189],"xmlns:mml=\"http://www.w3.org/1998/Math/MathML\"":[190],"xmlns:xlink=\"http://www.w3.org/1999/xlink\">1</sub>":[191],"penalty":[192],"(since":[193],"should":[199],"rare).":[201],"We":[202],"present":[203],"results":[204],"on":[205],"both":[206],"simulated":[207],"well":[210],"two-sequenced":[212],"parent-child":[213],"trios":[214],"1000":[217],"Genomes":[218],"Project.":[219]},"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}
