Emerging Simplex ORigins In ALS

Deliverables

Open Research Data Pilot (1)

Data management plan

The drafting of a datamanagement plan.

Publications

Peer reviewed articles (5)

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Author(s): Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J. F. A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle
Published in: Genome Biology, 21/1, 2020, ISSN 1474-760X
Publisher: Springer Nature
DOI: 10.1186/s13059-020-02017-z

Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease

Author(s): Hannelore K. van der Burgh, Henk-Jan Westeneng, Jil M. Meier, Michael A. van Es, Jan H. Veldink, Jeroen Hendrikse, Martijn P. van den Heuvel, Leonard H. van den Berg
Published in: NeuroImage: Clinical, 24, 2019, Page(s) 101984, ISSN 2213-1582
Publisher: Elsevier BV
DOI: 10.1016/j.nicl.2019.101984

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

Author(s): Rick A.A. van der Spek, Wouter van Rheenen, Sara L. Pulit, Kevin P. Kenna, Leonard H. van den Berg, Jan H. Veldink
Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20/5-6, 2019, Page(s) 432-440, ISSN 2167-8421
Publisher: Informa Healthcare
DOI: 10.1080/21678421.2019.1606244

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Author(s): Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew Gross, Giuseppe Narzisi, Brett Bowman, Konrad Scheffler, Joke J F A van Vugt, Courtney French, Alba Sanchis-Juan, Kristina Ibáñez, Arianna Tucci, Bryan R Lajoie, Jan H Veldink, F Lucy Raymond, Ryan J Taft, David R Bentley, Michael A Eberle
Published in: Bioinformatics, 35/22, 2019, Page(s) 4754-4756, ISSN 1367-4803
Publisher: Oxford University Press
DOI: 10.1093/bioinformatics/btz431

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Author(s): Annelot M. Dekker, Frank P. Diekstra, Sara L. Pulit, Gijs H. P. Tazelaar, Rick A. van der Spek, Wouter van Rheenen, Kristel R. van Eijk, Andrea Calvo, Maura Brunetti, Philip Van Damme, Wim Robberecht, Orla Hardiman, Russell McLaughlin, Adriano Chiò, Michael Sendtner, Albert C. Ludolph, Jochen H. Weishaupt, Jesus S. Mora Pardina, Leonard H. van den Berg, Jan H. Veldink
Published in: Scientific Reports, 9/1, 2019, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-019-42091-3