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Comprehensive de novo variant discovery with HiFi long-read sequencing

ABSTRACT: 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.

PROVIDER: EGAS00001006479 | EGA |

REPOSITORIES: EGA

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