Comprehensive de novo variant discovery with HiFi long-read sequencing
We performed whole-genome sequencing of 8 trios with intellectual disability using Pacbio HiFi long-reads. We then called variants with PBSV and Deepvariant. We filtered for high-quality de novo variants and validated them.
- Type: Other
- Archiver: EGA European Genome-Phenome Archive
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Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Genome Med 15: 2023 34