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COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

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Title: COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.
Authors: Favier A; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France., Chounta S; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France., Garcia A; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France., Jabot-Hanin F; Imagine Institute, Bioinformatics Platform, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS 3633, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Chen X; Imagine Institute, Data Science Platform, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Garcelon N; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France.; Imagine Institute, Data Science Platform, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Burgun A; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France.; Department of Medical Informatics, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, F-75015, France., Higueras M; Universidad de La Rioja, Scientific Computation Research Institute (SCRIUR), Logroño, La Rioja, 26006, Spain., Guilloux A; Université Paris Cité, Sorbonne Université, INSERM, Centre de recherche des Cordeliers, Paris, F- 75006, France.; INRIA,HeKA, Paris, F-75015, France., Benmerah A; Imagine Institute, Laboratory of Hereditary Kidney Diseases, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Martin Y; Imagine Institute, Laboratory of Hereditary Kidney Diseases, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Billot K; Imagine Institute, Laboratory of Hereditary Kidney Diseases, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Rozet JM; Imagine Institute, Laboratory of Genetics in Ophthalmology (LGO), Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Perrault I; Imagine Institute, Laboratory of Genetics in Ophthalmology (LGO), Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Cormier-Daire V; Imagine Institute, Laboratory of pathophysiological basis of skeletal dysplasia, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Reference Center for Skeletal Dysplasia, Paris, F-75015, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, F‑75015, France., Huber C; Imagine Institute, Laboratory of pathophysiological basis of skeletal dysplasia, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Zaidan M; Service de Néphrologie, Dialyse et Transplantation, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Bicêtre, 78, avenue du Général Leclerc, Le Kremlin-Bicêtre, F-94270, France., Attie-Bitach T; Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, F‑75015, France., Saunier S; Imagine Institute, Laboratory of Hereditary Kidney Diseases, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France., Rausell A; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France. antonio.rausell@institutimagine.org.; Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, F‑75015, France. antonio.rausell@institutimagine.org.
Source: Genome medicine [Genome Med] 2026 Mar 24; Vol. 18 (1). Date of Electronic Publication: 2026 Mar 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.
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  Data: <searchLink fieldCode="AU" term="%22Favier+A%22">Favier A</searchLink>; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France.<br /><searchLink fieldCode="AU" term="%22Chounta+S%22">Chounta S</searchLink>; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France.<br /><searchLink fieldCode="AU" term="%22Garcia+A%22">Garcia A</searchLink>; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France.<br /><searchLink fieldCode="AU" term="%22Jabot-Hanin+F%22">Jabot-Hanin F</searchLink>; Imagine Institute, Bioinformatics Platform, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS 3633, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Chen+X%22">Chen X</searchLink>; Imagine Institute, Data Science Platform, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Garcelon+N%22">Garcelon N</searchLink>; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France.; Imagine Institute, Data Science Platform, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Burgun+A%22">Burgun A</searchLink>; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France.; Department of Medical Informatics, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Higueras+M%22">Higueras M</searchLink>; Universidad de La Rioja, Scientific Computation Research Institute (SCRIUR), Logroño, La Rioja, 26006, Spain.<br /><searchLink fieldCode="AU" term="%22Guilloux+A%22">Guilloux A</searchLink>; Université Paris Cité, Sorbonne Université, INSERM, Centre de recherche des Cordeliers, Paris, F- 75006, France.; INRIA,HeKA, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Benmerah+A%22">Benmerah A</searchLink>; Imagine Institute, Laboratory of Hereditary Kidney Diseases, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Martin+Y%22">Martin Y</searchLink>; Imagine Institute, Laboratory of Hereditary Kidney Diseases, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Billot+K%22">Billot K</searchLink>; Imagine Institute, Laboratory of Hereditary Kidney Diseases, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Rozet+JM%22">Rozet JM</searchLink>; Imagine Institute, Laboratory of Genetics in Ophthalmology (LGO), Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Perrault+I%22">Perrault I</searchLink>; Imagine Institute, Laboratory of Genetics in Ophthalmology (LGO), Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Imagine Institute, Laboratory of pathophysiological basis of skeletal dysplasia, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Reference Center for Skeletal Dysplasia, Paris, F-75015, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, F‑75015, France.<br /><searchLink fieldCode="AU" term="%22Huber+C%22">Huber C</searchLink>; Imagine Institute, Laboratory of pathophysiological basis of skeletal dysplasia, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Zaidan+M%22">Zaidan M</searchLink>; Service de Néphrologie, Dialyse et Transplantation, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Bicêtre, 78, avenue du Général Leclerc, Le Kremlin-Bicêtre, F-94270, France.<br /><searchLink fieldCode="AU" term="%22Attie-Bitach+T%22">Attie-Bitach T</searchLink>; Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, F‑75015, France.<br /><searchLink fieldCode="AU" term="%22Saunier+S%22">Saunier S</searchLink>; Imagine Institute, Laboratory of Hereditary Kidney Diseases, Université Paris Cité, INSERM UMR 1163, Paris, F-75015, France.<br /><searchLink fieldCode="AU" term="%22Rausell+A%22">Rausell A</searchLink>; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, Paris, F-75006, France. antonio.rausell@institutimagine.org.; Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Paris, F‑75015, France. antonio.rausell@institutimagine.org.
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  Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2026 Mar 24; Vol. 18 (1). <i>Date of Electronic Publication: </i>2026 Mar 24.
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