{"id":"https://openalex.org/W4412024035","doi":"https://doi.org/10.1093/bioinformatics/btag341","title":"MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays","display_name":"MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays","publication_year":2026,"publication_date":"2026-05-22","ids":{"openalex":"https://openalex.org/W4412024035","doi":"https://doi.org/10.1093/bioinformatics/btag341","pmid":"https://pubmed.ncbi.nlm.nih.gov/40631151"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btag341","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btag341","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1093/bioinformatics/btag341","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090243609","display_name":"Franjo Ivankovic","orcid":"https://orcid.org/0000-0002-6776-8626"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I94062374","display_name":"Florida College","ror":"https://ror.org/010bgev76","country_code":"US","type":"education","lineage":["https://openalex.org/I94062374"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Franjo Ivankovic","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA 02114,","Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","Program in Brain Health, Molecular and Population Genetics Program, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","University of Florida Genetics Institute, Genetics and Genomics Graduate Program, College of Medicine, University of Florida , Gainesville, FL 32610,","Center for OCD, Anxiety, and Related Disorders, Department of Psychiatry, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 3260","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 0212","Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114"],"raw_orcid":"https://orcid.org/0000-0002-6776-8626","affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA 02114,","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Program in Brain Health, Molecular and Population Genetics Program, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"University of Florida Genetics Institute, Genetics and Genomics Graduate Program, College of Medicine, University of Florida , Gainesville, FL 32610,","institution_ids":["https://openalex.org/I33213144","https://openalex.org/I94062374"]},{"raw_affiliation_string":"Center for OCD, Anxiety, and Related Disorders, Department of Psychiatry, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 3260","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 0212","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070894257","display_name":"Dongmei Yu","orcid":"https://orcid.org/0000-0001-7901-4365"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210107954","display_name":"NeuroDevelopment Center","ror":"https://ror.org/01htgmk28","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210107954"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dongmei Yu","raw_affiliation_strings":["Psychiatric and Neurodevelopmental Genetics Unit, Departments of Psychiatry and Neurology, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114,","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","Psychiatric and Neurodevelopemental Genetics Unit, Center for Genomic Medicine, Departments of Psychiatry and Neurology, Massachusetts General Hospital, Boston, MA 02114","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 0212"],"raw_orcid":"https://orcid.org/0000-0001-7901-4365","affiliations":[{"raw_affiliation_string":"Psychiatric and Neurodevelopmental Genetics Unit, Departments of Psychiatry and Neurology, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114,","institution_ids":["https://openalex.org/I4210087915","https://openalex.org/I4210107954"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Psychiatric and Neurodevelopemental Genetics Unit, Center for Genomic Medicine, Departments of Psychiatry and Neurology, Massachusetts General Hospital, Boston, MA 02114","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 0212","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042470757","display_name":"James Shen","orcid":null},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James Shen","raw_affiliation_strings":["Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","Center for OCD, Anxiety, and Related Disorders, Department of Psychiatry, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 3260"],"raw_orcid":"https://orcid.org/0009-0007-3406-3025","affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Center for OCD, Anxiety, and Related Disorders, Department of Psychiatry, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 3260","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086531000","display_name":"Lingyu Zhan","orcid":"https://orcid.org/0000-0001-6718-878X"},"institutions":[{"id":"https://openalex.org/I103922791","display_name":"QB3","ror":"https://ror.org/04n1n3n22","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I103922791","https://openalex.org/I180670191","https://openalex.org/I185103710","https://openalex.org/I95457486"]},{"id":"https://openalex.org/I4210098931","display_name":"Quantitative BioSciences","ror":"https://ror.org/010brsj79","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210098931"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lingyu Zhan","raw_affiliation_strings":["Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California , Los Angeles, CA 90024,","The Collaboratory, Institute for Quantitative and Computational Biosciences, University of California , Los Angeles, CA 90095,","Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024","The Collaboratory, Institute for Quantitative and Computational Biosciences, University of California, Los Angeles, Los Angeles, CA, 90095"],"raw_orcid":"https://orcid.org/0000-0001-6718-878X","affiliations":[{"raw_affiliation_string":"Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California , Los Angeles, CA 90024,","institution_ids":[]},{"raw_affiliation_string":"The Collaboratory, Institute for Quantitative and Computational Biosciences, University of California , Los Angeles, CA 90095,","institution_ids":["https://openalex.org/I103922791","https://openalex.org/I4210098931"]},{"raw_affiliation_string":"Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024","institution_ids":[]},{"raw_affiliation_string":"The Collaboratory, Institute for Quantitative and Computational Biosciences, University of California, Los Angeles, Los Angeles, CA, 90095","institution_ids":["https://openalex.org/I103922791","https://openalex.org/I4210098931"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001375126","display_name":"Maria Niarchou","orcid":"https://orcid.org/0000-0002-8855-7393"},"institutions":[{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maria Niarchou","raw_affiliation_strings":["Division of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center , Nashville, TN 37240,","Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN 32703"],"raw_orcid":"https://orcid.org/0000-0002-8855-7393","affiliations":[{"raw_affiliation_string":"Division of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center , Nashville, TN 37240,","institution_ids":["https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN 32703","institution_ids":["https://openalex.org/I901861585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5116234945","display_name":"Ariadne Kaylor","orcid":"https://orcid.org/0009-0003-9576-8679"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210107954","display_name":"NeuroDevelopment Center","ror":"https://ror.org/01htgmk28","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210107954"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ariadne Kaylor","raw_affiliation_strings":["Psychiatric and Neurodevelopmental Genetics Unit, Departments of Psychiatry and Neurology, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114,","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 0212"],"raw_orcid":"https://orcid.org/0009-0003-9576-8679","affiliations":[{"raw_affiliation_string":"Psychiatric and Neurodevelopmental Genetics Unit, Departments of Psychiatry and Neurology, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114,","institution_ids":["https://openalex.org/I4210087915","https://openalex.org/I4210107954"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 0212","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038667699","display_name":"Laura Dom\u00e8nech","orcid":"https://orcid.org/0000-0003-2265-0824"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210107954","display_name":"NeuroDevelopment Center","ror":"https://ror.org/01htgmk28","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210107954"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura Dom\u00e8nech","raw_affiliation_strings":["Psychiatric and Neurodevelopmental Genetics Unit, Departments of Psychiatry and Neurology, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114,","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","Broad Institute of MIT and Harvard, Cambridge, MA 02142","Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095"],"raw_orcid":"https://orcid.org/0000-0003-2265-0824","affiliations":[{"raw_affiliation_string":"Psychiatric and Neurodevelopmental Genetics Unit, Departments of Psychiatry and Neurology, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114,","institution_ids":["https://openalex.org/I4210087915","https://openalex.org/I4210107954"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA 02142","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095","institution_ids":["https://openalex.org/I161318765"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016826447","display_name":"Tyne W. Miller\u2010Fleming","orcid":"https://orcid.org/0000-0002-0398-5162"},"institutions":[{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tyne W Miller-Fleming","raw_affiliation_strings":["Division of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center , Nashville, TN 37240,","Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN 32703"],"raw_orcid":"https://orcid.org/0000-0002-0398-5162","affiliations":[{"raw_affiliation_string":"Division of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center , Nashville, TN 37240,","institution_ids":["https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN 32703","institution_ids":["https://openalex.org/I901861585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5118819028","display_name":"Luz M Porras","orcid":"https://orcid.org/0000-0002-0162-4494"},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Luz M Porras","raw_affiliation_strings":["Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","Center for OCD, Anxiety, and Related Disorders, Department of Psychiatry, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 3260"],"raw_orcid":"https://orcid.org/0000-0002-0162-4494","affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Center for OCD, Anxiety, and Related Disorders, Department of Psychiatry, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 3260","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043647815","display_name":"Paola Giusti\u2010Rodr\u00edguez","orcid":"https://orcid.org/0000-0002-1921-1305"},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paola Giusti-Rodr\u00edguez","raw_affiliation_strings":["Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","Center for OCD, Anxiety, and Related Disorders, Department of Psychiatry, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 3260"],"raw_orcid":"https://orcid.org/0000-0002-1921-1305","affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Center for OCD, Anxiety, and Related Disorders, Department of Psychiatry, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 3260","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022855713","display_name":"Roel A. Ophoff","orcid":"https://orcid.org/0000-0002-8287-6457"},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]},{"id":"https://openalex.org/I2803209242","display_name":"University of California System","ror":"https://ror.org/00pjdza24","country_code":"US","type":"education","lineage":["https://openalex.org/I2803209242"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Roel A Ophoff","raw_affiliation_strings":["Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California , Los Angeles, CA 90024,","Department of Human Genetics, David Geffen School of Medicine, University of California , Los Angeles, CA 90095,","Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024"],"raw_orcid":"https://orcid.org/0000-0002-8287-6457","affiliations":[{"raw_affiliation_string":"Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California , Los Angeles, CA 90024,","institution_ids":[]},{"raw_affiliation_string":"Department of Human Genetics, David Geffen School of Medicine, University of California , Los Angeles, CA 90095,","institution_ids":["https://openalex.org/I161318765","https://openalex.org/I2803209242"]},{"raw_affiliation_string":"Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079732116","display_name":"Jeremiah M. Scharf","orcid":"https://orcid.org/0000-0002-4742-5896"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210107954","display_name":"NeuroDevelopment Center","ror":"https://ror.org/01htgmk28","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210107954"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeremiah M Scharf","raw_affiliation_strings":["Division of Cognitive and Behavioral Neurology, Brigham and Women\u2019s Hospital , Boston, MA 02115,","Division of Movement Disorders, Department of Neurology, Massachusetts General Hospital , Boston, MA 02114,","Psychiatric and Neurodevelopmental Genetics Unit, Departments of Psychiatry and Neurology, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114,","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 0212","Division of Movement Disorders, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114","Division of Cognitive and Behavioral Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115"],"raw_orcid":"https://orcid.org/0000-0002-4742-5896","affiliations":[{"raw_affiliation_string":"Division of Cognitive and Behavioral Neurology, Brigham and Women\u2019s Hospital , Boston, MA 02115,","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Division of Movement Disorders, Department of Neurology, Massachusetts General Hospital , Boston, MA 02114,","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Psychiatric and Neurodevelopmental Genetics Unit, Departments of Psychiatry and Neurology, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114,","institution_ids":["https://openalex.org/I4210087915","https://openalex.org/I4210107954"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142,","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 0212","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Division of Movement Disorders, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Division of Cognitive and Behavioral Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115","institution_ids":["https://openalex.org/I1283280774"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085647098","display_name":"Carol A. Mathews","orcid":"https://orcid.org/0000-0003-2208-7058"},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]},{"id":"https://openalex.org/I4210097518","display_name":"McKnight Brain Research Foundation","ror":"https://ror.org/00vsf1v04","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210097518"]},{"id":"https://openalex.org/I94062374","display_name":"Florida College","ror":"https://ror.org/010bgev76","country_code":"US","type":"education","lineage":["https://openalex.org/I94062374"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carol A Mathews","raw_affiliation_strings":["Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","Evelyn F. and William L. McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","University of Florida Genetics Institute, Genetics and Genomics Graduate Program, College of Medicine, University of Florida , Gainesville, FL 32610,","Evelyn F. and William L. McKnight Brain Institute, University of Florida, Gainesville, FL 32610"],"raw_orcid":"https://orcid.org/0000-0003-2208-7058","affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Center for OCD, Anxiety, and Related Disorders, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Evelyn F. and William L. McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32603,","institution_ids":["https://openalex.org/I4210097518"]},{"raw_affiliation_string":"University of Florida Genetics Institute, Genetics and Genomics Graduate Program, College of Medicine, University of Florida , Gainesville, FL 32610,","institution_ids":["https://openalex.org/I33213144","https://openalex.org/I94062374"]},{"raw_affiliation_string":"Evelyn F. and William L. McKnight Brain Institute, University of Florida, Gainesville, FL 32610","institution_ids":["https://openalex.org/I4210097518"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5090243609"],"corresponding_institution_ids":["https://openalex.org/I107606265","https://openalex.org/I33213144","https://openalex.org/I4210087915","https://openalex.org/I94062374"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00317221,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"42","issue":"6","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9997000098228455,"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":0.9997000098228455,"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/T10885","display_name":"Gene expression and cancer classification","score":0.9922000169754028,"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":0.984499990940094,"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/copy-number-variation","display_name":"Copy-number variation","score":0.7999129295349121},{"id":"https://openalex.org/keywords/genotyping","display_name":"Genotyping","score":0.7358241081237793},{"id":"https://openalex.org/keywords/matching","display_name":"Matching (statistics)","score":0.536588728427887},{"id":"https://openalex.org/keywords/dna-microarray","display_name":"DNA microarray","score":0.5274978876113892},{"id":"https://openalex.org/keywords/algorithm","display_name":"Algorithm","score":0.49487417936325073},{"id":"https://openalex.org/keywords/sensitivity","display_name":"Sensitivity (control systems)","score":0.4803294241428375},{"id":"https://openalex.org/keywords/copy-number-analysis","display_name":"Copy number analysis","score":0.4530971348285675},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.4367189407348633},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.43629223108291626},{"id":"https://openalex.org/keywords/jaccard-index","display_name":"Jaccard index","score":0.4141693115234375},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.3539542555809021},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.33114805817604065},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.297066330909729},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.20582729578018188},{"id":"https://openalex.org/keywords/pattern-recognition","display_name":"Pattern recognition (psychology)","score":0.17608973383903503},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.14895763993263245},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.13939419388771057},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.10432279109954834},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.09483769536018372}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.7999129295349121},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.7358241081237793},{"id":"https://openalex.org/C165064840","wikidata":"https://www.wikidata.org/wiki/Q1321061","display_name":"Matching (statistics)","level":2,"score":0.536588728427887},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.5274978876113892},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.49487417936325073},{"id":"https://openalex.org/C21200559","wikidata":"https://www.wikidata.org/wiki/Q7451068","display_name":"Sensitivity (control systems)","level":2,"score":0.4803294241428375},{"id":"https://openalex.org/C166608930","wikidata":"https://www.wikidata.org/wiki/Q5169175","display_name":"Copy number analysis","level":5,"score":0.4530971348285675},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.4367189407348633},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.43629223108291626},{"id":"https://openalex.org/C203519979","wikidata":"https://www.wikidata.org/wiki/Q865360","display_name":"Jaccard index","level":3,"score":0.4141693115234375},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3539542555809021},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33114805817604065},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.297066330909729},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.20582729578018188},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.17608973383903503},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.14895763993263245},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.13939419388771057},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.10432279109954834},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.09483769536018372},{"id":"https://openalex.org/C24326235","wikidata":"https://www.wikidata.org/wiki/Q126095","display_name":"Electronic engineering","level":1,"score":0.0},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.1093/bioinformatics/btag341","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btag341","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"doi:10.1101/2025.06.30.662249","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2025.06.30.662249","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2025/07/04/2025.06.30.662249.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmid:40631151","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40631151","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":"bioRxiv : the preprint server for biology","raw_type":null},{"id":"pmid:42178371","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42178371","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:12236774","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12236774","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":"bioRxiv","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:13257853","is_oa":true,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42178371/","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":"doi:10.1093/bioinformatics/btag341","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btag341","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G6608360479","display_name":null,"funder_award_id":"NS082168","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320310796","display_name":"Tourette Association of America","ror":"https://ror.org/00x2ve368"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2062965527","https://openalex.org/W2133327999","https://openalex.org/W2081326723","https://openalex.org/W4291136042","https://openalex.org/W2014477412","https://openalex.org/W2032955575","https://openalex.org/W2154361640","https://openalex.org/W2003084393","https://openalex.org/W2090717238","https://openalex.org/W2082810381"],"abstract_inverted_index":{"MOTIVATION:":[0],"Copy-number":[1],"variants":[2],"(CNVs)":[3],"are":[4],"a":[5,67,113,249],"form":[6],"of":[7,47,70,84,127,169,188,206],"genetic":[8,35],"structural":[9],"variation":[10],"with":[11,231],"increasing":[12,136,166],"importance":[13],"in":[14,34,42,94,130,204],"complex":[15],"human":[16],"disorders.":[17],"Both":[18],"DNA":[19],"sequencing":[20],"and":[21,139,209,220,222,268],"microarray":[22],"data":[23],"can":[24,31,99],"be":[25,32,246],"used":[26,33,79,265],"to":[27,80,91,123,182],"detect":[28],"CNVs,":[29],"which":[30,54],"association":[36],"tests.":[37],"Unlike":[38],"genotypes,":[39],"CNV":[40,132,147,173,199],"detection":[41,200],"microarrays":[43,122],"requires":[44],"the":[45,56,82,125,131,137,160,167,183,198],"use":[46,187,250],"observed":[48],"intensity":[49],"signals":[50],"at":[51,228,279],"each":[52],"probe,":[53],"limits":[55],"imputability":[57],"for":[58,172,211,242,257,266],"analyses":[59],"that":[60,116,159,195,240],"span":[61],"multiple":[62],"array":[63],"types.":[64],"Thus":[65],"far,":[66],"consensus":[68,189],"set":[69],"probes":[71,118,128,170,190],"(those":[72],"present":[73],"on":[74,237,248],"all":[75],"arrays)":[76],"has":[77,89],"been":[78],"circumvent":[81],"problem":[83],"differing":[85],"array-specific":[86],"sensitivities.":[87],"This":[88],"led":[90],"excessive":[92],"reduction":[93],"overall":[95],"sensitivity":[96,140,164],"since":[97],"arrays":[98],"have":[100],"an":[101,224],"undesirably":[102],"low":[103],"probe":[104],"overlap.":[105],"To":[106],"overcome":[107],"this":[108,243],"limitation,":[109],"we":[110,157],"developed":[111],"MarkerMatch,":[112],"proximity-based":[114],"algorithm":[115],"matches":[117,197],"across":[119,153],"different":[120,155],"genotyping":[121],"maximize":[124],"number":[126],"considered":[129],"calling":[133,174],"algorithm,":[134],"thereby":[135],"resolution":[138],"while":[141,175],"preserving":[142],"precision.":[143],"RESULTS:":[144],"By":[145],"analyzing":[146],"calls":[148],"from":[149,201],"4906":[150],"individuals":[151],"genotyped":[152],"three":[154],"arrays,":[156],"show":[158],"MarkerMatch":[161,196,217,258],"approach":[162],"improves":[163],"by":[165],"density":[168],"available":[171,260,271,278],"maintaining":[176],"precision":[177],"or":[178],"improving":[179],"it":[180],"relative":[181],"current":[184,202],"practice":[185,203],"(e.g.":[186],"only).":[191],"We":[192,214],"further":[193],"demonstrate":[194],"terms":[205],"F1":[207],"score":[208],"PPV":[210],"larger":[212],"CNVs.":[213],"also":[215],"optimize":[216],"parameters,":[218],"DMAX":[219,226],"Method,":[221,238],"find":[223],"optimal":[225,234],"setting":[227],"10":[229],"kb,":[230],"no":[232],"clear":[233],"candidate":[235],"based":[236],"indicating":[239],"parameters":[241],"metric":[244],"should":[245],"determined":[247],"case":[251],"basis.":[252],"AVAILABILITY:":[253],"The":[254,263,274],"R":[255],"package":[256],"is":[259,270,277],"at:":[261,272],"https://github.com/FranjoIM/MarkerMatch.":[262],"code":[264],"analysis":[267],"implementation":[269],"https://doi.org/10.5281/zenodo.18460979.":[273],"live":[275],"notebook":[276],"https://fivankovic.notion.site/2026-markermatch.":[280]},"counts_by_year":[],"updated_date":"2026-07-23T08:03:31.855105","created_date":"2025-10-10T00:00:00"}
