Comprehensive de novo variant discovery with HiFi long-read sequencing

Study ID Alternative Stable ID Type
EGAS00001006479 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
6 trios and 1 proband were whole genome sequenced with PacBio Sequel II to a depth of 30X, using the HiFi chemistry. For each trio the proband was affected with severe ID, and the parents were unaffected. Samples are grouped by trio.
Sequel 19

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