QR Concordance (QRC)

qrcme: SNP-Based Genetic Data Concordance and Fingerprinting Tool

qrcme extracts predefined identification single nucleotide polymorphisms (SNPs) from raw genetic data, encodes their genotypes into Quick Response (QR) codes, and compares these codes to assess concordance between genetic datasets.

Key Features:

• Unique SNP Identification: Selects 80 fingerprinting SNPs based on allele frequencies across five major continental populations from the 1000 Genomes Project and the ExAC Consortium to generate robust individual genetic fingerprints.
• Enhanced Informative Panel: Incorporates four SNPs predictive of ABO blood type and two SNPs predictive of sex to increase discriminatory power across diverse populations.
• QR Code-Based Concordance Check: Encodes extracted ID SNP genotypes into QR codes and performs direct comparison to quantify concordance between genetic datasets.
• Reduced Marker Set: Uses a minimal 80-SNP panel to enable efficient genetic data labeling and tracking in large-scale sequencing projects.

Scientific Applications:

• Sample Identity Verification: Confirms that DNA sequence data files originate from the same individual in clinical research, biobanking, precision medicine, and personalized healthcare studies.

Methodology:

qrcme applies population genetics criteria to select highly informative SNPs using allele frequency data from the 1000 Genomes Project and the ExAC Consortium. Additional SNPs predictive of ABO blood type and sex are integrated to enhance identification accuracy. Extracted genotypes are encoded into QR codes, which are computationally compared to determine dataset concordance.