{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Dolzhenko E"],"funding":["NHGRI NIH HHS","None"],"pagination":["84"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9367089"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Results</h4>We implemented REViewer, a computational method for visualization of sequencing data in genomic re"],"journal":["Genome medicine"],"pubmed_title":["REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats."],"pmcid":["PMC9367089"],"funding_grant_id":["U01 HG011755","UM1 HG008900"],"pubmed_authors":["Fazal S","Richmond PA","Chong SS","Rehm HL","Carroll A","Ding J","Anyansi C","Qiu Y","Eberle MA","Bennett MF","Ibanez K","van Vugt JJFA","Genomics England Research Consortium","Weisburd B","Halman A","Dolzhenko E","Clamons S","Scheffler K","Jadhav B","Saunders CT","Deshpande V","Rajan-Babu IS","Friedman JM","Billingsley K","Zwamborn RRAJ","Tucci A","Danzi MC"],"additional_accession":[]},"is_claimable":false,"name":"REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.","description":"<h4>Background</h4>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.<h4>Results</h4>We implemented REViewer, a computational method for visualization of sequencing data in genomic re","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-05-09T16:18:44.594Z","creation":"2025-02-19T01:55:41.991Z"},"accession":"S-EPMC9367089","cross_references":{"pubmed":["35948990"],"doi":["10.1186/s13073-022-01085-z"]}}