To date, how effective has transcriptomic testing (RNA-sequencing) been when combined with genomic testing for diagnosis of unsolved
| dc.contributor.advisor | Dr Diana Baralle | |
| dc.contributor.author | AMAL MUQHIM ABDULLAH ALMUQHIM | |
| dc.date | 2020 | |
| dc.date.accessioned | 2022-05-29T10:30:04Z | |
| dc.date.available | 2022-05-29T10:30:04Z | |
| dc.degree.department | Genomic Medicine | |
| dc.degree.grantor | university of southampton | |
| dc.description.abstract | there are more than 50% of rare genetic diseases without a diagnosis because of many reasons including the shortage in DNA diagnosis. we aim to collect sn evidence to support the efficacy of the combined transcriptomic and DNA testing approach to diagnosed the remaining unsolved cases. | |
| dc.identifier.uri | https://drepo.sdl.edu.sa/handle/20.500.14154/45257 | |
| dc.language.iso | en | |
| dc.title | To date, how effective has transcriptomic testing (RNA-sequencing) been when combined with genomic testing for diagnosis of unsolved | |
| sdl.thesis.level | Master | |
| sdl.thesis.source | SACM - United Kingdom |