Biologically Accurate Synthetic cfDNA For Genomics Research

Biologically accurate, reference-backed cell-free DNA across 107 genetic conditions. Built for NIPT algorithm development, method validation, and genomics research.

Funded by Emergent VenturesValidated against real karyotyped T21 clinical samples

Clinically Validated

AUC 0.87 detecting real karyotyped T21 using only synthetic training data (p=0.002). Detects cases that standard NIPT would miss. Tested on 26 clinical samples from Lun et al. 2014.

0.87AUC vs real T21

Comprehensive Coverage

107 genetic conditions across 7 categories — aneuploidies, microdeletions, microduplications, monogenic disorders, oncology hotspots, repeat expansions, and imprinting disorders.

107conditions

Pipeline Ready

94.2% alignment at MAPQ >= 30. Delivered as paired-end FASTQ or aligned BAM. Drop directly into existing NIPT pipelines.

94%alignment rate

Two Products, One Mission

In Development

AI-Enhanced Prenatal Testing

Clinical Platform — Coming Soon

  • Targeting ultra-low foetal fraction analysis (1-2%)
  • 107 condition screening in a single test
  • Population-specific risk assessment
  • Real-time quality assessment and confidence scoring
0.87AUC vs real T21 samples
100%T21 detection sensitivity
107Genetic conditions modelled
94%MAPQ >= 30 alignment rate

How It Works

01

Configure

Specify conditions, foetal fraction, fragment depth, and output format for your synthetic samples

02

Generate

Reference-backed cfDNA fragments with biologically accurate size distributions, GC content, and condition-specific signals

03

Validate & Use

Ground-truth labelled data ready for algorithm development, method validation, or ML model training

Ready to Get Started?

Whether you need synthetic cfDNA data for algorithm development and validation, or are interested in our clinical prenatal testing platform in development, we are accepting enquiries.