Session # P548

HiFi long‑read WGS: sequencing performance of buccal and saliva samples and estimation of non‑human DNA contamination from unaligned HiFi reads

Presenting Author: Stuti Joshi, MS

Take home points: 

1. gDNA isolation from buccal and saliva samples yielded suitable HMW DNA for HiFi LR-WGS.
2. Variable contamination levels from the oral microbiome reduces mean sequencing depth.
3. qPCR offers a means to make reliable pre-sequencing estimates of non-human content in buccal/saliva samples.
4. Quantification of contamination prior to sequencing offers opportunities to optimize multiplexing, increasing throughput and reducing the cost of sequencing per sample.

• Authors: Stuti Joshi; Kenny Chen; Tiantian Geier; Erica Smith; Sami Belhadj; John Harting; Yun-Hua Hsiao; Bojan Losic; Seth Berger; Rachid Karam; David Brohawn; Emmanuele C. Delot
• Collaborators: University of California, Irvine
• Conference: ACMG 2026
• Date: Friday, Mar 13, 2026 10:30am - 11:30am