SinoDuplex

SinoDuplex enhances detection of low-frequency mutations in plasma cell-free DNA (cfDNA) by using an improved duplex sequencing approach to generate accurate duplex consensus sequences for sensitive variant calling.


Key Features:

  • Improved consensus sequence generation: Utilizes a pool of adapters with pre-defined barcode sequences to generate consensus sequences and reduce the number of possible barcode combinations compared to random-sequence methods.
  • Novel computational algorithm for duplex consensus: Employs a computational analysis algorithm to produce duplex consensus sequences enabling precise detection of very low allele-frequency mutations.
  • Cost-effectiveness: Optimizes consensus generation and barcode usage to lower sequencing complexity and overall assay cost.
  • Validation on clinical materials: Demonstrated efficacy using reference standard samples and cfDNA from lung cancer patients for low-frequency variant detection.

Scientific Applications:

  • Liquid biopsy-based cancer diagnostics: Detection of low-frequency mutations in plasma cfDNA for cancer diagnosis from liquid biopsies.
  • Tumor dynamics and treatment monitoring: Tracking tumor burden and treatment response through sensitive detection of emerging low-allele-frequency variants.
  • Personalized medicine: Precise mutation detection from plasma samples to inform individualized clinical decision-making.

Methodology:

Generates duplex consensus sequences by using a pool of adapters with pre-defined barcode sequences and a computational analysis algorithm to reduce barcode combination space versus random barcodes and produce accurate duplex consensus reads.

Topics

Details

License:
GPL-3.0
Programming Languages:
C++
Added:
1/18/2021
Last Updated:
2/19/2021

Operations

Publications

Ren Y, Zhang Y, Wang D, Liu F, Fu Y, Xiang S, Su L, Li J, Dai H, Huang B. SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-Frequency Variants in Plasma cfDNA Samples. Genomics, Proteomics & Bioinformatics. 2020;18(1):81-90. doi:10.1016/j.gpb.2020.02.003. PMID:32428603. PMCID:PMC7393544.

PMID: 32428603
PMCID: PMC7393544
Funding: - Guangzhou Science and Technology Plan projects of China: 201802020004