Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing-Reference-Cited by-同舟云学术

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

Published:2019-11-18 Issue:12 Volume:37 Page:1478-1481
ISSN:1087-0156
Container-title:Nature Biotechnology
language:en
Short-container-title:Nat Biotechnol

Author:

Giesselmann Pay^ORCID,Brändl Björn,Raimondeau Etienne,Bowen Rebecca,Rohrandt Christian^ORCID,Tandon Rashmi,Kretzmer Helene,Assum Günter,Galonska Christina,Siebert Reiner,Ammerpohl Ole,Heron Andrew,Schneider Susanne A.,Ladewig Julia,Koch Philipp,Schuldt Bernhard M.,Graham James E.,Meissner Alexander^ORCID,Müller Franz-Josef^ORCID

Funder

Max-Planck-Gesellschaft

Oxford Nanopore Technologies

Hector Stiftung II gGmbH

Deutsche Forschungsgemeinschaft

Bundesministerium für Bildung und Forschung

Publisher

Springer Science and Business Media LLC

Subject

Biomedical Engineering,Molecular Medicine,Applied Microbiology and Biotechnology,Bioengineering,Biotechnology

Link

http://www.nature.com/articles/s41587-019-0293-x.pdf

Reference44 articles.

1. DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245–256 (2011).

2. Renton, A. E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257–268 (2011).

3. Crook, A. et al. The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling. Amyotroph. Lateral Scler. Frontotemporal Degener. 20, 310–316 (2019).

4. Klepek, H., Goutman, S. A., Quick, A., Kolb, S. J. & Roggenbuck, J. Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing. Neurol. Genet. 5, e301 (2019).

5. Gatchel, J. R. & Zoghbi, H. Y. Diseases of unstable repeat expansion: mechanisms and common principles. Nat. Rev. Genet. 6, 743–755 (2005).

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