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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.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001009109 Sequel 19
Publications Citations
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Genome Med 15: 2023 34