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.