Genome Aggregation Database Version 4—Allele Frequency Changes and Impact on Variant Interpretation in Dystonia
A growing number of dystonia-linked alleles are seen in gnomAD v4. The presence in population-scale data does not preclude pathogenicity. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Michael Zech (ORCID: https://orcid.org/0000-0001-8112-9153)
- Katja Lohmann (ORCID: https://orcid.org/0000-0002-5121-1460)
- Christine Klein (ORCID: https://orcid.org/0000-0003-2102-3431)
- Elisabetta Indelicato (ORCID: https://orcid.org/0000-0003-0217-8630)
- Lara Mariah Lange (ORCID: https://orcid.org/0000-0002-7162-9821)
- Sylvia Boesch (ORCID: https://orcid.org/0000-0003-1657-7368)
- Anja Eberl (ORCID: https://orcid.org/0000-0001-8963-0233)
Institutions
- Innsbruck Medical University (AT)
- Helmholtz Zentrum München (DE)
- University Hospital Schleswig-Holstein (DE)
- Institute for Advanced Study (DE)
- Technical University of Munich (DE)
- University of Lübeck (DE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2024-11-21
- DOI
- https://doi.org/10.1002/mds.30066
- Citations
- 5
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 2.75
Funders
- Michael J. Fox Foundation for Parkinson's Research
- Australian Government
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Else Kröner-Fresenius-Stiftung
- Technische Universität München