| Autor: |
Alistair T, Pagnamenta, Jing, Yu, Julie, Evans, Philip, Twiss, Amaka C, Offiah, Mohamed, Wafik, Sarju G, Mehta, Mohammed K, Javaid, Sarah F, Smithson, L, Wilson |
| Rok vydání: |
2022 |
| Zdroj: |
Journal of medical genetics. |
| ISSN: |
1468-6244 |
| Popis: |
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 linked to well-characterised skeletal disorders. Ten individuals from three independent families were found to harbour diagnostic inversions. In two families, inverted segments of 1.2/14.8 Mb unequivocally disrupted |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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