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Article

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.

Journal of medical genetics - 1 May 2023

Pagnamenta Alistair T, Yu Jing, Evans Julie, Twiss Philip, Offiah Amaka C, Wafik Mohamed, Mehta Sarju G, Javaid Mohammed K, Smithson Sarah F, Taylor Jenny C

Abstract excerpt

Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely to suffer from underascertainment. In this study, manual review prompted by a virtual multidisciplinary team meeting and subsequent bioinformatic prioritisation of data from the 100K Genomes Project was performed across 43 genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36411030
DOI: 10.1136/jmg-2022-108753
PMCID: PMC10176330

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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