Key Focus:
RARE + COMPLEX
DISEASE
Bringing Clarity to the Unseen
For families, clinicians, and researchers, rare and complex diseases pose some of the toughest questions in medicine — often defined by small patient cohorts, elusive variants, and overlapping phenotypes.
Genomics is the key to bringing those answers to light.
At AUGenomics, we empower clinical and translational researchers to uncover the molecular causes of rare disorders, integrate genomic insights into clinical studies, and accelerate discoveries that bring personalized care closer to reality.
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Identify de novo or inherited variants in undiagnosed patients
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Detect structural, copy-number, or repeat expansions that drive disease
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Link genetic changes to transcriptomic and phenotypic outcomes
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Perform multi-omic integration for difficult-to-diagnose disorders
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Validate disease-causing variants in model systems or functional assays
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Support clinical studies and patient registries with high-quality genomic data
How Genomics Unravels Complexity
Every rare disease tells a genetic story — but not all stories are simple.
Through next-generation sequencing (NGS), researchers can:
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Identify pathogenic variants using Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS).
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Detect structural or copy-number variations that contribute to complex phenotypes.
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Integrate RNA-seq or epigenomic data to uncover expression-level changes or regulatory defects.
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Correlate genotypes with phenotypes across small or multi-family cohorts.
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Advance precision medicine by linking molecular mechanisms to therapeutic response.
By uniting deep sequencing with robust bioinformatics, genomics enables rare disease researchers to move from uncertainty to insight — even when sample sizes are small or inheritance patterns unclear.
At AUGenomics, we combine sensitivity, speed, and scientific partnership to help rare disease teams find answers where traditional methods fall short.
Common Sample Types
We process diverse materials from clinical and research sources, including:
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Blood, plasma, or buffy coat — for DNA, cfDNA, or RNA extraction.
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Saliva and buccal swabs — for non-invasive DNA collection.
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Fresh or frozen tissue — for somatic variant or expression profiling.
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FFPE samples — for retrospective studies and cohort expansion.
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Cell lines or organoids — for functional follow-up studies.
Tailored Solutions
We collaborate with medical research teams, clinical labs, and biotech partners to design sequencing strategies tailored to discovery, diagnosis, and validation.
We specialize in:
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Whole Genome Sequencing (WGS): for comprehensive detection of SNVs, indels, CNVs, and structural variants.
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Whole Exome Sequencing (WES): for targeted, cost-effective variant discovery in coding regions.
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RNA-seq: for expression-level and splicing variant analysis to complement WES/WGS findings.
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Methylation and Epigenomic Profiling: for detecting imprinting or regulatory abnormalities.
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Targeted Gene Panels or Custom Assays: for known disease pathways or family-specific variants.
Explore our sequencing services for rare and complex disease research:
Whole Genome Sequencing (WGS) · Whole Exome Sequencing (WES) · RNA-seq · Methylation Sequencing · Variant Validation Services
Why Us?
At AUGenomics, we understand the urgency and precision required in rare and complex disease research. Each dataset represents more than a project — it represents a patient, a family, a story waiting for answers.
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Proven success in low-input, high-sensitivity sequencing for rare and degraded samples.
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Deep experience across Mendelian and multifactorial disorders.
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Customizable workflows to support case-control, trio, or cohort-based designs.
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Collaborative consultation and transparent communication at every stage.
From single-gene disorders to multi-omic complexity, AUGenomics helps researchers uncover the molecular basis of disease — faster, deeper, and with confidence.
Let’s Work Together
Get in touch so we can start working together.
