Background: Well-characterised references are essential for benchmarking sequencing platforms. Methods: Ashkenazi Jewish GIAB trio samples were sequenced on MGI DNBSEQ-T7 using PCR-free, FastFS DNA, and Universal DNA workflows (≥30×), processed with GATK, and evaluated against GIAB truth sets. Results: All workflows showed strong concordance; PCR-free performed best for indels and Mendelian violations. Conclusion: The public dataset supports DNBSEQ-T7 adoption for high-throughput genomics relevant to African diversity studies.
Session 3 — Flash talks
Benchmarking DNBSEQ-T7 sequencing performance using Genome in a Bottle reference genomes: impact of library preparation strategies
Maano Malima*, Ansia van Coller, Setshaba Taukobong, Samira Ghoor, Nganea Nangammbi, Enrico Roode, Martin Naicker, Victoria Cole, Brigitte Glanzmann, Craig Kinnear, Nadia Carstens
SAMRC Genomics Platform and collaborating SAMRC / Stellenbosch / Wits units
maano.malima@mrc.ac.za
Keywords: DNBSEQ-T7; GIAB; library preparation; variant calling