Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease
Pediatric genetic conditions are caused by a spectrum of genomic alterations, including non-coding variants, which often fail to be identified using low throughput methods. Whole genome sequencing (WGS) can detect the full spectrum of genome alterations simultaneously, comprehensively, and unbiase...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hrvatski liječnički zbor
2023-01-01
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| Series: | Liječnički vjesnik |
| Subjects: | |
| Online Access: | https://hrcak.srce.hr/file/438314 |