cfDNA

cfDNA analyzes circulating cell-free DNA sequencing data using a targeted sequencing assay with unique molecular identifiers (UMIs) to detect genomic variants, copy number variations, and fragmentation profiles in plasma-derived DNA.

Key Features:

• UMI-Based Error Correction: Utilizes unique molecular identifiers (UMIs) to correct sequencing errors and improve variant detection accuracy in cfDNA sequencing data.
• Low-Frequency Variant Detection: Identifies low-frequency genomic variants within a targeted 284.5 kb genomic region sequenced from plasma DNA.
• Copy Number Variation Detection: Detects copy number variations (CNVs), including ERBB2 gene amplification associated with HER2 subtype classification.
• Tumor Variant Concordance Analysis: Detects actionable driver and clonal variants in cfDNA with reported concordance between plasma-derived DNA and primary or metastatic tumor sequencing.
• Fragmentation Profile Analysis: Characterizes cfDNA fragmentation patterns associated with breast cancer compared to healthy controls.

Scientific Applications:

• Liquid Biopsy Genomic Profiling: Identifies tumor-associated genomic alterations from circulating cell-free DNA in plasma samples.
• Breast Cancer Molecular Characterization: Detects driver mutations, clonal variants, and ERBB2 copy number alterations associated with HER2 subtype classification.
• Disease Monitoring: Supports longitudinal monitoring of cancer progression and treatment response through cfDNA sequencing analysis.

Methodology:

cfDNA analyzes targeted sequencing data from a 284.5 kb genomic region using unique molecular identifiers for error correction and computational detection of low-frequency variants, copy number variations, and cfDNA fragmentation patterns.