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

Date:
Friday, Mar 13, 2026 12:00am – 12:00am
Conference:
ACMG 2026
Authors:
Bojan Losic, David Brohawn, Emmanuele C. Delot, Erica Smith, John Harting, Kenny Chen, Sami Belhadj, Seth Berger, Stuti Joshi, Tiantian Geier, Yun-Hua Hsiao

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.