Year: 2018
Type: preprint
Abstract: Expansions of short tandem repeats are genetic variants that have been implicated in neuropsychiatric and other disorders but their assessment remains challenging with current molecular methods. Here, we developed a Cas12a-based enrichment strategy for nanopore sequencing that, combined with a new algorithm for raw signal analysis, enables us to efficiently target, sequence and precisely quantify repeat numbers as well as their DNA methylation status. Taking advantage of these single molecule nanopore signals provides therefore unprecedented opportunities to study pathological repeat expansions.
DOI: 10.1101/480285
Authors: Pay Gießelmann, Björn Brändl, Etienne Raimondeau, Rebecca Bowen, Christian Rohrandt, Rashmi Tandon, Helene Kretzmer, Günter Assum, Christina Galonska, Reiner Siebert, Ole Ammerpohl, Andrew Heron, Susanne A. Schneider, Julia Ladewig, Philipp Koch, Bernhard M. Schuldt, James E. Graham, Alexander Meissner, Franz-Josef Müller
Institutions: Max Planck Institute for Molecular Genetics, University Hospital Schleswig-Holstein, Oxford Nanopore Technologies (United Kingdom), Hochschule für Angewandte Wissenschaften Kiel, Universität Ulm, Ludwig-Maximilians-Universität München, University of Bonn, German Cancer Research Center, Heidelberg University, Central Institute of Mental Health, Medizinische Fakultät Mannheim, Harvard University
Language: English
Subfield: Biomedical Engineering
Field: Engineering
Domain: Physical Sciences
Open Access status: green
OpenAlex ID: W2903043345