Sample identity verification is one of the most critical — and underserved — steps in genomic research. Errors propagate silently through all downstream analyses.
Mix-ups at collection, processing, or sequencing introduce systematic errors that affect every downstream analysis.
Low-level contamination from adjacent samples confounds variant calls and obscures true biological signal.
Mislabeled FASTQ files, incorrect subject IDs in manifests, and database entry mistakes are common in large cohort studies.
The same individual may appear as WGS, RNA-seq, and methylation data — each requiring concordance checks across fundamentally different data types.
Existing tools force format conversion or are limited to a single assay type. Most require aligned BAM input, adding hours of pre-processing. Tools optimized for WGS SNPs perform poorly on sparse coverage, RNA-editing sites, or bisulfite-converted reads. Long-read error profiles cause false-positive mismatches in tools calibrated on short-read Illumina data.
Resphera SNP Check is designed to handle every configuration — without requiring re-processing into a common format.
FASTQ (SE/PE), BAM, CRAM, SAM, FASTA, or VCF — compressed or uncompressed. Format and reference version detected automatically.
WGS, WES, targeted panels, RNA-seq, ATAC-seq, methylation sequencing, and single-cell data all supported.
Illumina, Complete Genomics, PacBio HiFi, and Oxford Nanopore — short reads, long reads, and everything in between.
Compare WGS vs. RNA-seq, WES vs. methylation, or any cross-assay combination in a single unified cohort report.
A lightweight SNP fingerprinting approach requiring no alignment pre-processing.
Accepts FASTQ, BAM, CRAM, SAM, FASTA, or VCF directly. Format and compression detected automatically — no alignment pre-processing required.
Genotypes a curated panel of highly polymorphic, ancestry-balanced SNPs from the input reads or variant calls.
Computes allele-sharing statistics between any two samples, regardless of assay type, platform, or coverage depth.
Dynamic threshold analysis of concordance scores to characterize the degree of genomic relatedness across sample pairs.
Contact us to discuss your sample identity verification needs. We work with data from any genomic platform, assay type, and file format.