Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

Identification of pathogenic variant enriched regions across genes and gene families

View ORCID ProfileEduardo Pérez-Palma, View ORCID ProfilePatrick May, Sumaiya Iqbal, Lisa-Marie Niestroj, Juanjiangmeng Du, Henrike Heyne, Jessica Castrillon, View ORCID ProfileAnne O’Donnell-Luria, Peter Nürnberg, Aarno Palotie, Mark Daly, Dennis Lal
doi: https://doi.org/10.1101/641043
Eduardo Pérez-Palma
1Cologne Center for Genomics, University of Cologne, Cologne, NRW, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Eduardo Pérez-Palma
Patrick May
2Luxembourg Centre for Systems Biomedicine, University Luxembourg, Esch-sur-Alzette, Luxembourg
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Patrick May
Sumaiya Iqbal
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
4Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Lisa-Marie Niestroj
1Cologne Center for Genomics, University of Cologne, Cologne, NRW, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Juanjiangmeng Du
1Cologne Center for Genomics, University of Cologne, Cologne, NRW, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Henrike Heyne
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
4Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jessica Castrillon
5Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Anne O’Donnell-Luria
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Anne O’Donnell-Luria
Peter Nürnberg
1Cologne Center for Genomics, University of Cologne, Cologne, NRW, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Aarno Palotie
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
4Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Mark Daly
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
4Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Dennis Lal
1Cologne Center for Genomics, University of Cologne, Cologne, NRW, Germany
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
4Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
5Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, USA
7Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: lald@ccf.org
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Preview PDF
Loading

Article Information

doi 
https://doi.org/10.1101/641043
History 
  • May 17, 2019.
Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.

Author Information

  1. Eduardo Pérez-Palma1,
  2. Patrick May2,
  3. Sumaiya Iqbal3,4,
  4. Lisa-Marie Niestroj1,
  5. Juanjiangmeng Du1,
  6. Henrike Heyne3,4,
  7. Jessica Castrillon5,
  8. Anne O’Donnell-Luria3,
  9. Peter Nürnberg1,
  10. Aarno Palotie3,4,6,
  11. Mark Daly3,4,6 and
  12. Dennis Lal1,3,4,5,7,*
  1. 1Cologne Center for Genomics, University of Cologne, Cologne, NRW, Germany
  2. 2Luxembourg Centre for Systems Biomedicine, University Luxembourg, Esch-sur-Alzette, Luxembourg
  3. 3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
  4. 4Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
  5. 5Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, USA
  6. 6Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
  7. 7Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, USA
  1. ↵*Correspondence: Dr. Dennis Lal (lald{at}ccf.org)
Back to top
PreviousNext
Posted May 17, 2019.
Download PDF
Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
Identification of pathogenic variant enriched regions across genes and gene families
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
Identification of pathogenic variant enriched regions across genes and gene families
Eduardo Pérez-Palma, Patrick May, Sumaiya Iqbal, Lisa-Marie Niestroj, Juanjiangmeng Du, Henrike Heyne, Jessica Castrillon, Anne O’Donnell-Luria, Peter Nürnberg, Aarno Palotie, Mark Daly, Dennis Lal
bioRxiv 641043; doi: https://doi.org/10.1101/641043
Reddit logo Twitter logo Facebook logo LinkedIn logo Mendeley logo
Citation Tools
Identification of pathogenic variant enriched regions across genes and gene families
Eduardo Pérez-Palma, Patrick May, Sumaiya Iqbal, Lisa-Marie Niestroj, Juanjiangmeng Du, Henrike Heyne, Jessica Castrillon, Anne O’Donnell-Luria, Peter Nürnberg, Aarno Palotie, Mark Daly, Dennis Lal
bioRxiv 641043; doi: https://doi.org/10.1101/641043

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Subject Area

  • Genetics
Subject Areas
All Articles
  • Animal Behavior and Cognition (4384)
  • Biochemistry (9610)
  • Bioengineering (7105)
  • Bioinformatics (24898)
  • Biophysics (12633)
  • Cancer Biology (9974)
  • Cell Biology (14374)
  • Clinical Trials (138)
  • Developmental Biology (7966)
  • Ecology (12127)
  • Epidemiology (2067)
  • Evolutionary Biology (16003)
  • Genetics (10936)
  • Genomics (14756)
  • Immunology (9881)
  • Microbiology (23700)
  • Molecular Biology (9490)
  • Neuroscience (50934)
  • Paleontology (370)
  • Pathology (1541)
  • Pharmacology and Toxicology (2687)
  • Physiology (4025)
  • Plant Biology (8675)
  • Scientific Communication and Education (1512)
  • Synthetic Biology (2402)
  • Systems Biology (6444)
  • Zoology (1346)