Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

• Mihail Halachev ,

  Roles Data curation, Formal analysis, Investigation, Methodology, Software, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: mihail.halachev@igmm.ed.ac.uk

  Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom

  http://orcid.org/0000-0002-4594-4588

  ⨯
• Alison Meynert,

  Roles Data curation, Methodology, Project administration, Supervision, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom

  http://orcid.org/0000-0001-5839-1751

  ⨯
• Martin S. Taylor,

  Roles Methodology, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom

  http://orcid.org/0000-0001-7656-330X

  ⨯
• Veronique Vitart,

  Roles Funding acquisition, Resources, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom

  http://orcid.org/0000-0002-4991-3797

  ⨯
• Shona M. Kerr,

  Roles Funding acquisition, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom

  http://orcid.org/0000-0002-4137-1495

  ⨯
• Lucija Klaric,

  Roles Investigation, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom

  http://orcid.org/0000-0003-3105-8929

  ⨯
• S. G. P. Consortium ,

  ¶Membership of the Scottish Genomes Partnership (SGP) Consortium is provided in the Acknowledgments.

  ⨯
• Timothy J. Aitman,

  Roles Funding acquisition, Resources, Writing – review & editing

  Affiliation Centre for Genomic and Experimental Medicine, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom

  http://orcid.org/0000-0002-7875-4502

  ⨯
• Chris S. Haley,

  Roles Funding acquisition, Writing – review & editing

  Affiliations MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom, The Roslin Institute, University of Edinburgh, Easter Bush, Midlothian, United Kingdom

  http://orcid.org/0000-0002-9811-0210

  ⨯
• James G. Prendergast,

  Roles Data curation, Writing – review & editing

  Affiliation The Roslin Institute, University of Edinburgh, Easter Bush, Midlothian, United Kingdom

  http://orcid.org/0000-0001-8916-018X

  ⨯
• Carys Pugh,

  Roles Data curation

  Affiliation Centre for Clinical Brain Sciences, Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, United Kingdom

  http://orcid.org/0000-0002-6548-0311

  ⨯
• David A. Hume,

  Roles Funding acquisition, Writing – review & editing

  Affiliation Mater Research Institute, University of Queensland, Woolloongabba, Australia

  ⨯
• Sarah E. Harris,

  Roles Data curation, Writing – review & editing

  Affiliation Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, School of Philosophy, Psychology and Language Sciences, University of Edinburgh, George Square, Edinburgh, United Kingdom

  http://orcid.org/0000-0002-4941-5106

  ⨯
• David C. Liewald,

  Roles Data curation

  Affiliation Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, School of Philosophy, Psychology and Language Sciences, University of Edinburgh, George Square, Edinburgh, United Kingdom

  http://orcid.org/0000-0002-0544-7368

  ⨯
• Ian J. Deary,

  Roles Funding acquisition, Resources, Writing – review & editing

  Affiliation Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, School of Philosophy, Psychology and Language Sciences, University of Edinburgh, George Square, Edinburgh, United Kingdom

  ⨯
• Colin A. Semple ,

  Contributed equally to this work with: Colin A. Semple, James F. Wilson

  Roles Conceptualization, Methodology, Project administration, Supervision, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom

  http://orcid.org/0000-0003-1765-4118

  ⨯
•  [ ... ],
• James F. Wilson

  Contributed equally to this work with: Colin A. Semple, James F. Wilson

  Roles Conceptualization, Funding acquisition, Methodology, Project administration, Resources, Supervision, Writing – review & editing

  Affiliations MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh, United Kingdom, Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh, United Kingdom

  http://orcid.org/0000-0001-5751-9178

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