{"id":"https://openalex.org/W7160262925","doi":"https://doi.org/10.1093/bioinformatics/btag177","title":"A framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism.","display_name":"A framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism.","publication_year":2026,"publication_date":"2026-05-03","ids":{"openalex":"https://openalex.org/W7160262925","doi":"https://doi.org/10.1093/bioinformatics/btag177","pmid":"https://pubmed.ncbi.nlm.nih.gov/42082430"},"language":"en","primary_location":{"id":"pmid:42082430","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42082430","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":"Bioinformatics (Oxford, England)","raw_type":null},"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13151883/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113162749","display_name":"Haeun Moon","orcid":null},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Haeun Moon","raw_affiliation_strings":["Department of Statistics, Seoul National University, Seoul, 08826, South Korea","School of Transdisciplinary Innovations, Seoul National University, Seoul, 08826, South Korea","Institute for Data Innovation in Science, Seoul National University, Seoul, 08826, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Statistics, Seoul National University, Seoul, 08826, South Korea","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"School of Transdisciplinary Innovations, Seoul National University, Seoul, 08826, South Korea","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"Institute for Data Innovation in Science, Seoul National University, Seoul, 08826, South Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135361039","display_name":"Laura Sloofman","orcid":null},"institutions":[{"id":"https://openalex.org/I1314596251","display_name":"Allen Institute for Brain Science","ror":"https://ror.org/00dcv1019","country_code":"US","type":"facility","lineage":["https://openalex.org/I1314596251","https://openalex.org/I4210140341"]},{"id":"https://openalex.org/I4210111958","display_name":"Child Health and Development Institute","ror":"https://ror.org/02bns0488","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210111958"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura Sloofman","raw_affiliation_strings":["Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I1314596251","https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I4210111958"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009590215","display_name":"Marina Natividad Avila","orcid":null},"institutions":[{"id":"https://openalex.org/I1314596251","display_name":"Allen Institute for Brain Science","ror":"https://ror.org/00dcv1019","country_code":"US","type":"facility","lineage":["https://openalex.org/I1314596251","https://openalex.org/I4210140341"]},{"id":"https://openalex.org/I4210111958","display_name":"Child Health and Development Institute","ror":"https://ror.org/02bns0488","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210111958"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marina Natividad Avila","raw_affiliation_strings":["Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I1314596251","https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I4210111958"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135326411","display_name":"Lambertus Klei","orcid":null},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lambertus Klei","raw_affiliation_strings":["Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15260, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15260, United States","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135381687","display_name":"Bernie Devlin","orcid":null},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bernie Devlin","raw_affiliation_strings":["Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15260, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15260, United States","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135331543","display_name":"Joseph D Buxbaum","orcid":null},"institutions":[{"id":"https://openalex.org/I1314596251","display_name":"Allen Institute for Brain Science","ror":"https://ror.org/00dcv1019","country_code":"US","type":"facility","lineage":["https://openalex.org/I1314596251","https://openalex.org/I4210140341"]},{"id":"https://openalex.org/I4210111958","display_name":"Child Health and Development Institute","ror":"https://ror.org/02bns0488","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210111958"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joseph D Buxbaum","raw_affiliation_strings":["Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I1314596251","https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States","institution_ids":["https://openalex.org/I4210111958"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5135368049","display_name":"Kathryn Roeder","orcid":null},"institutions":[{"id":"https://openalex.org/I74973139","display_name":"Carnegie Mellon University","ror":"https://ror.org/05x2bcf33","country_code":"US","type":"education","lineage":["https://openalex.org/I74973139"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathryn Roeder","raw_affiliation_strings":["Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA 15213, United States","Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA 15213, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA 15213, United States","institution_ids":["https://openalex.org/I74973139"]},{"raw_affiliation_string":"Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA 15213, United States","institution_ids":["https://openalex.org/I74973139"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":10.8441,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.98215463,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":97},"biblio":{"volume":"42","issue":"5","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.35199999809265137,"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":0.35199999809265137,"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.16949999332427979,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.14489999413490295,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/inference","display_name":"Inference","score":0.5303000211715698},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.45989999175071716},{"id":"https://openalex.org/keywords/inheritance","display_name":"Inheritance (genetic algorithm)","score":0.4564000070095062},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.4519999921321869},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.4406999945640564},{"id":"https://openalex.org/keywords/classifier","display_name":"Classifier (UML)","score":0.40130001306533813},{"id":"https://openalex.org/keywords/association","display_name":"Association (psychology)","score":0.3935000002384186},{"id":"https://openalex.org/keywords/sequence","display_name":"Sequence (biology)","score":0.36320000886917114},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.32899999618530273}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6430000066757202},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6297000050544739},{"id":"https://openalex.org/C2776214188","wikidata":"https://www.wikidata.org/wiki/Q408386","display_name":"Inference","level":2,"score":0.5303000211715698},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.45989999175071716},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4580000042915344},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.4564000070095062},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4519999921321869},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4406999945640564},{"id":"https://openalex.org/C95623464","wikidata":"https://www.wikidata.org/wiki/Q1096149","display_name":"Classifier (UML)","level":2,"score":0.40130001306533813},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.3935000002384186},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.36320000886917114},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.32899999618530273},{"id":"https://openalex.org/C2994538360","wikidata":"https://www.wikidata.org/wiki/Q774081","display_name":"Association test","level":5,"score":0.3151000142097473},{"id":"https://openalex.org/C2910691881","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Multifactorial Inheritance","level":5,"score":0.3109000027179718},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.29980000853538513},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2915000021457672},{"id":"https://openalex.org/C183905921","wikidata":"https://www.wikidata.org/wiki/Q1038757","display_name":"Multiple comparisons problem","level":2,"score":0.29089999198913574},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.2831000089645386},{"id":"https://openalex.org/C2993807623","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genetic data","level":3,"score":0.28299999237060547},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.2809999883174896},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.27730000019073486},{"id":"https://openalex.org/C9357733","wikidata":"https://www.wikidata.org/wiki/Q6878417","display_name":"Missing data","level":2,"score":0.2727000117301941},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.2709999978542328},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.2524000108242035},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.25189998745918274}],"mesh":[{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:42082430","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42082430","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:13151883","is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13151883/","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":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:13151883","is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13151883/","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":"Bioinformatics","raw_type":"Text"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"MOTIVATION:":[0],"Gene-damaging":[1],"mutations":[2],"are":[3,20,39,78,110,152],"highly":[4],"informative":[5],"for":[6,50,85,105,125],"studies":[7],"seeking":[8],"to":[9,41,61,121],"discover":[10],"genes":[11],"underlying":[12],"developmental":[13],"disorders.":[14],"Traditionally,":[15],"these":[16],"de":[17,43,67,102],"novo":[18,44,68,103],"variants":[19,72,89,106],"recognized":[21],"by":[22],"evaluating":[23],"high-quality":[24],"DNA":[25],"sequence":[26,35],"from":[27,57,69],"affected":[28],"offspring":[29],"and":[30,46,63,88,99,142,157],"parents.":[31],"However,":[32],"when":[33,107],"parental":[34,108],"is":[36,73],"unavailable,":[37],"methods":[38],"required":[40],"infer":[42],"status":[45],"use":[47,55,122],"this":[48,123],"inference":[49],"association":[51,140],"studies.":[52],"RESULTS:":[53],"We":[54],"data":[56,87,109],"autism":[58],"spectrum":[59],"disorder":[60],"illustrate":[62],"evaluate":[64],"methods.":[65],"Separating":[66],"rare":[70],"inherited":[71],"challenging":[74],"because":[75],"the":[76,144],"latter":[77],"far":[79],"more":[80,137],"common.":[81],"Using":[82],"a":[83,101,115,136],"classifier":[84],"unbalanced":[86],"of":[90],"known":[91],"inheritance":[92,97],"class,":[93],"we":[94,113],"build":[95],"an":[96,130],"model":[98,120],"then":[100],"score":[104,124],"missing.":[111],"Next,":[112],"propose":[114],"new":[116],"Random":[117],"Draw":[118],"(RD)":[119],"gene":[126],"discovery.":[127],"Built":[128],"into":[129],"existing":[131],"inferential":[132],"framework,":[133],"RD":[134],"produces":[135],"powerful":[138],"gene-based":[139],"test":[141],"controls":[143],"false":[145],"discovery":[146],"rate.":[147],"AVAILABILITY":[148],"AND":[149],"IMPLEMENTATION:":[150],"Codes":[151],"available":[153],"at":[154],"Github":[155],"(https://github.com/HaeunM/TADA-RD)":[156],"Zenodo":[158],"(DOI:":[159],"https://doi.org/10.5281/zenodo.18531769).":[160]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-06-24T06:17:17.354583","created_date":"2026-05-06T00:00:00"}