Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Algorithms
Cerebellar Ataxia
/ etiology
Cohort Studies
Computational Biology
/ methods
Family
Female
Genomics
Humans
Introns
Male
Microsatellite Repeats
Middle Aged
Polyneuropathies
/ etiology
Replication Protein C
/ genetics
Sensation Disorders
/ etiology
Syndrome
Vestibular Diseases
/ etiology
Whole Genome Sequencing
CANVAS
ataxia
repeat expansions
short tandem repeats
whole-genome sequencing
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
03 07 2019
03 07 2019
Historique:
received:
27
02
2019
accepted:
21
05
2019
pubmed:
25
6
2019
medline:
12
3
2020
entrez:
25
6
2019
Statut:
ppublish
Résumé
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded repeat sequences in NGS data. We performed genetic studies of a cohort of 35 individuals from 22 families with a clinical diagnosis of cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Analysis of whole-genome sequence (WGS) data with five independent algorithms identified a recessively inherited intronic repeat expansion [(AAGGG)
Identifiants
pubmed: 31230722
pii: S0002-9297(19)30203-4
doi: 10.1016/j.ajhg.2019.05.016
pmc: PMC6612533
pii:
doi:
Substances chimiques
RFC1 protein, human
0
Replication Protein C
EC 3.6.4.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
151-165Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM007814
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS082094
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG006542
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103538
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.
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