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Resphera SNP Check™

Know every sample is who it says it is.

Rapid sample identity verification across a broad range of assays, sequencing platforms, and file formats. Point it at FASTQ, BAM, CRAM, or VCF and quickly learn whether two samples come from the same individual.

Resphera SNP Check · pairwise concordance
S-0142 · WGS · BAMsample A
S-0142 · RNA-seq · FASTQsample B
Genotype concordance · 0 / 0 sites
—
Comparing…
hom ref het hom alt labeled subject conflict illustrative data
Built for high-stakes data

Resphera SNP Check can uncover sample identity problems hiding in multi-sample omics datasets, from large research studies to cell line panels.

Identity errors rarely announce themselves. They pass routine QC metrics and quietly undermine every downstream result. Resphera SNP Check is built to catch them before analysis, not after publication.

In motion

From raw files to an identity network.

Every sample becomes a node. Every genotype match becomes a link. Samples that don't belong where they're labeled stand out immediately.

  1. 01
    Ingest

    Raw data files are processed from a wide range of assays and platforms, and evaluated against their expected origin.

  2. 02
    Compare

    Genotype concordance links samples together. Related individuals cluster at low thresholds.

  3. 03
    Resolve

    Raising the threshold separates relatives into distinct individuals.

  4. 04
    Flag

    A sample whose genotype matches a different subject is flagged as a likely swap.

correlation ≥ —
labeled subject genotype match
20 samples
illustrative
The problem

Identity errors propagate silently through every downstream analysis.

Sample identity verification is one of the most critical, and most underserved, steps in genomic research.

Sample Swaps

Mix-ups at collection, processing, or sequencing introduce systematic errors that affect every downstream analysis.

Cross-Contamination

Low-level contamination from adjacent samples confounds variant calls and obscures true biological signal.

Metadata Errors

Mislabeled FASTQ files, incorrect subject IDs in manifests, and database entry mistakes are common in large multi-sample studies.

Heterogeneous Pipelines

The same individual may appear as WGS, RNA-seq, and methylation data, each requiring concordance checks across fundamentally different data types.

Mixed data types make identity checks hard. Converting everything to a common aligned format can add hours of pre-processing. Sparse coverage, RNA-editing sites, and bisulfite-converted reads can distort SNP genotypes, and long-read error profiles can look like genotype mismatches. Resphera SNP Check is designed for these differences, working directly from FASTQ, BAM, CRAM, or VCF and comparing samples across assays in a single report.
Key capabilities

Flexible inputs.
No re-processing.

Resphera SNP Check handles a wide range of input combinations without converting them into a common format first.

Flexible File Formats

Compressed or uncompressed. Format and reference version detected automatically.

FASTQBAMCRAMSAMFASTAVCF

Multiple Assay Types

Bulk, targeted, epigenetic, and single-cell data all supported.

WGSWESPanelsRNA-seqATACMethylscRNA

Major Platforms

Short reads, long reads, and everything in between.

IlluminaComplete GenomicsPacBio HiFiONT

Cross-Assay Pairs

Compare samples across assay types in a single unified report.

WGS ↔ RNAWES ↔ MethylBAM ↔ VCF
High
Sensitivity & specificity
3
Gold-standard validation datasets
1000 GENOMES · GIAB · CCLE
8+
Supported assay types
How it works

Lightweight SNP fingerprinting. No alignment required.

From raw files to a relatedness verdict for every sample pair in your dataset.

01

Input Ingestion

Accepts FASTQ, BAM, CRAM, SAM, FASTA, or VCF directly. Format and compression detected automatically, with no alignment pre-processing.

02

SNP Fingerprinting

Genotypes a curated panel of highly polymorphic, ancestry-balanced SNPs from the input reads or variant calls.

03

Pairwise Concordance

Computes allele-sharing statistics between pairs of samples across assay types and platforms, given sufficient coverage at fingerprint sites.

04

Relatedness Assessment

Dynamic threshold analysis of concordance scores characterizes the degree of genomic relatedness across sample pairs.

Get started

Catch identity errors before they reach your results.

Tell us about your study. We work with data from a wide range of genomic platforms, assay types, and file formats.

For Research Use Only. Not for use in diagnostic procedures.