Dataset Information


SNP arrays to confirm X-linkage in a family with idiopathic intellectual disability

ABSTRACT: L061 family with idiopathic non-syndromic intellectual disability remained unsolved after targeted screening of ID-related genes, array-CGH and exome sequencing. In order to perform custom tandem repeat screening on the X chromosome by long read single molecule sequencing, X-linkage needed to be confirmed by SNP arrays.

ORGANISM(S): Homo sapiens  

SUBMITTER: Alena Zablotskaya   Joris R. Vermeesch  

PROVIDER: E-MTAB-5903 | ArrayExpress | 2017-12-01


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Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.

Zablotskaya Alena A   Van Esch Hilde H   Verstrepen Kevin J KJ   Froyen Guy G   Vermeesch Joris R JR  

BMC medical genomics 20181219 1

BACKGROUND:The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing. Since short read massive parallel sequencing approaches do not allow the detection of larger tandem repeat expansions, we hypothesized that such expansions could be a hidden cause of X-linked intellectual disability. METHODS:We selectively captured over 1800 tandem repeats on the X chromosome and  ...[more]

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