Journal article
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
E Dolzhenko, B Weisburd, K Ibañez, IS Rajan-Babu, C Anyansi, MF Bennett, K Billingsley, A Carroll, S Clamons, MC Danzi, V Deshpande, J Ding, S Fazal, A Halman, B Jadhav, Y Qiu, PA Richmond, CT Saunders, K Scheffler, JJFA van Vugt Show all
Genome Medicine | Published : 2022
Open access
Abstract
Background: Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently developed that can identify repeat expansions in whole genome or exome sequencing data. Despite the widely recognized need for visual assessment of variant calls in clinical settings, current computational tools lack the ability to produce such visualizations for repeat expansions. Expanded repeats are difficult to visualize because they correspond to large insertions relative to the reference genome and involve many misaligning and ambiguously aligning reads. Results: We implemen..
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Awarded by National Institutes of Health
Funding Acknowledgements
ED, CA, AC, SC, VD, YQ, CS, KS, and ME are employed by and receive salary from Illumina, Inc. ISRB was a recipient of the MSFHR Research Trainee Award [#17091]. BW and HR were supported by NIH/NHGRI grants UM1HG008900 and U01HG011755. JV receives salary from a grant from The Prinses Beatrix Spierfonds (W.OR20-08). MB was supported by a Taking Flight Award from CURE Epilepsy. This work was supported by the Victorian State Government Operational Infrastructure Support Program and the Australian Government National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme.