Comprehensive de novo variant discovery with HiFi long-read sequencing
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https://www.omicsdi.org/dataset/ega/EGAS00001006479
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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.EGA study EGAS00001006479
创建时间：
2023-01-16
