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  Repeat expansion and methylation state analysis with nanopore sequencing

Gießelmann, P., Brändl, B., Raimondeau, E., Bowen, R., Rohrandt, C., Tandon, R., et al. (2018). Repeat expansion and methylation state analysis with nanopore sequencing. bioRxiv (Preprint Server), 480285. doi:10.1101/480285.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-8DFE-1 Version Permalink: http://hdl.handle.net/21.11116/0000-0004-5AC0-E
Genre: Journal Article

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Gießelmann.pdf (Preprint), 285KB
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Gießelmann, Pay1, Author              
Brändl, Björn1, Author              
Raimondeau, Etienne , Author
Bowen, Rebecca, Author
Rohrandt, Christian , Author
Tandon, Rashmi , Author
Kretzmer, Helene1, Author              
Assum, Günter , Author
Galonska, Christina1, Author              
Siebert, Reiner , Author
Ammerpohl, Ole, Author
Heron, Andrew , Author
Schneider, Susanne A. , Author
Ladewig, Julia, Author
Koch, Philipp , Author
Schuldt, Bernhard M. , Author
Graham, James E. , Author
Meissner, Alexander1, Author              
Müller, Franz-Josef2, Author              
Affiliations:
1Dept. of Genome Regulation (Head: Alexander Meissner), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2379694              
2Cellular Phenotyping (Franz-Josef Müller), Dept. of Genome Regulation, (Head: Alexander Meissner), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_3014190              

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 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.

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Language(s): eng - English
 Dates: 2018-11-28
 Publication Status: Published online
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 Identifiers: DOI: 10.1101/480285
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Title: bioRxiv (Preprint Server)
Source Genre: Journal
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Pages: - Volume / Issue: - Sequence Number: 480285 Start / End Page: - Identifier: -