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Autor
Adams, Mark 1 Adolfsson, Rolf 1 Alda, Martin 1 Alfredsson, Lars 1 Andlauer, Till F M 1 Andreassen, Ole A 1 Antoniou, Anastasia 1 Artigas, Maria Soler 1 Baune, Bernhard T 1 Bengesser, Susanne 1 Bidgeli, Tim 1 Biernacka, Joanna 1 Boehnke, Michael 1 Bosch, Rosa 1 Braun, Alice 1 Cairns, Murray 1 Carr, Vaughan J 1 Casas, Miquel 1 Catts, Stanley 1 Chatzinakos, Chris 1
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Pracoviště
Analytic and Translational Genetics U... 1 Biochemistry and Molecular Biology In... 1 Biometric Psychiatric Genetics Resear... 1 Campbell Family Mental Health Researc... 1 Cancer Epidemiology and Prevention M ... 1 Center for Mind Brain and Behavior Un... 1 Center for Neurobehavioral Genetics S... 1 Center for Statistical Genetics and D... 1 Centre for Human Genetics University ... 1 Centre for Neuropsychiatric Genetics ... 1 Centro de Biología Molecular Severo O... 1 Charles Bronfman Institute for Person... 1 Clinical Institute of Neuroscience Ho... 1 Clinical Research Center Shizuoka Gen... 1 Department 20 of Psychiatry Dalhousie... 1 Department of Biomedical and NeuroMot... 1 Department of Biomedicine University ... 1 Department of Child and Adolescent Ps... 1 Department of Clinical Genetics Amste... 1 Department of Clinical Neuroscience K... 1
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- Země
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- Země - grant
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- Nejvíce citované
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Autor
Adams, Mark 1 Adolfsson, Rolf 1 Alda, Martin 1 Alfredsson, Lars 1 Andlauer, Till F M 1 Andreassen, Ole A 1 Antoniou, Anastasia 1 Artigas, Maria Soler 1 Baune, Bernhard T 1 Bengesser, Susanne 1 Bidgeli, Tim 1 Biernacka, Joanna 1 Boehnke, Michael 1 Bosch, Rosa 1 Braun, Alice 1 Cairns, Murray 1 Carr, Vaughan J 1 Casas, Miquel 1 Catts, Stanley 1 Chatzinakos, Chris 1
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Pracoviště
Analytic and Translational Genetics U... 1 Biochemistry and Molecular Biology In... 1 Biometric Psychiatric Genetics Resear... 1 Campbell Family Mental Health Researc... 1 Cancer Epidemiology and Prevention M ... 1 Center for Mind Brain and Behavior Un... 1 Center for Neurobehavioral Genetics S... 1 Center for Statistical Genetics and D... 1 Centre for Human Genetics University ... 1 Centre for Neuropsychiatric Genetics ... 1 Centro de Biología Molecular Severo O... 1 Charles Bronfman Institute for Person... 1 Clinical Institute of Neuroscience Ho... 1 Clinical Research Center Shizuoka Gen... 1 Department 20 of Psychiatry Dalhousie... 1 Department of Biomedical and NeuroMot... 1 Department of Biomedicine University ... 1 Department of Child and Adolescent Ps... 1 Department of Clinical Genetics Amste... 1 Department of Clinical Neuroscience K... 1
- Publikační typ
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Země - grant
- Grantová agentura
- Nejvíce citované
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Koromina, Maria
Autor Koromina, Maria ORCID Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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Ravi, Ashvin
Autor Ravi, Ashvin ORCID Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
- Panagiotaropoulou, Georgia
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Schilder, Brian M
Autor Schilder, Brian M ORCID Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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Humphrey, Jack
Autor Humphrey, Jack ORCID Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
- Braun, Alice
- Bidgeli, Tim
- Chatzinakos, Chris
- Coombes, Brandon
- Kim, Jaeyoung
PubMed
38405768
PubMed Central
PMC10889003
DOI
10.1101/2024.02.12.24302716
PII: 2024.02.12.24302716
Knihovny.cz E-zdroje
Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 22 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD. Convergent lines of evidence supported the roles of SCN2A, TRANK1, DCLK3, INSYN2B, SYNE1, THSD7A, CACNA1B, TUBBP5, PLCB3, PRDX5, KCNK4, AP001453.3, TRPT1, FKBP2, DNAJC4, RASGRP1, FURIN, FES, YWHAE, DPH1, GSDMB, MED24, THRA, EEF1A2, and KCNQ2 in BD. These represent promising candidates for functional experiments to understand biological mechanisms and therapeutic potential. Additionally, we demonstrated that fine-mapping effect sizes can improve performance and transferability of BD polygenic risk scores across ancestrally diverse populations, and present a high-throughput fine-mapping pipeline (https://github.com/mkoromina/SAFFARI).
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