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Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing

Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing

Authors :
Gießelmann, P.
Brändl, B.
Raimondeau, E.
Bowen, R.
Rohrandt, C.
Tandon, R.
Kretzmer, H.
Assum, G.
Galonska, C.
Siebert, R.
Ammerpohl, O.
Heron, A.
Schneider, S.
Ladewig, J.
Koch, P.
Schuldt, B.
Graham, J.
Meissner, A.
Müller, F.
Source :
bioRxiv (Preprint Server), Nature Biotechnology
Publication Year :
2019

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.

Details

Language :
English
Database :
OpenAIRE
Journal :
bioRxiv (Preprint Server), Nature Biotechnology
Accession number :
edsair.od......1874..7ee45e732eae32bfbaa454ee21e9f8b8