CodeXome by Cornerstone Genomics

Every gene has a story. Without CodeXome, most are mysteries.

CodeXome integrates advanced evolutionary insights with modern human genomic studies. Reclassify genetic variants, predict protein function, and discover therapeutic targets with unmatched precision.

Human genetic discovery starts with evolution

Exclusive Datasets

Datasets generated from proprietary cell lines, including those of endangered primate taxa, provide a unique resource not available elsewhere to support robust cross-species comparisons.

Variant Reclassification

Researchers have reclassified over 30% of BRCA1 Variants of Uncertain Significance (VUS) with CodeXome's evolutionary insights, turning ambiguity into clarity and enhancing diagnostic accuracy.

Proprietary Analytics

Integrates data from over 55 primate genera, enabling researchers to see evolutionary patterns and reclassify variants based on high-confidence evolutionary markers.

A Fresh Take on the Common Challenges in Human Genetics

Population Bias

Traditional genomic studies often suffer from population biases. CodeXome eliminates these biases with a population-agnostic approach based on evolutionary history, providing clearer and more accurate insights.

Uncertainty in Variant Classification

Many genetic variants remain classified as uncertain due to limited context. CodeXome uses evolutionary data to reclassify these variants, reducing ambiguity and enhancing diagnostic accuracy.

Limited Insight into Protein Function

Traditional methods may miss how genetic changes impact protein function. CodeXome’s evolutionary analysis predicts these effects, offering insights into biological significance.

CASE STUDY FROM CORNERSTONE GENOMICS

Uncovering the Evolutionary Pathways of Stress Response

CodeXome’s evolutionary analysis has provided groundbreaking insights into how genetic changes influence stress responses in humans, with a focus on Post-Traumatic Stress Disorder (PTSD).

Gene Focus

ADCYAP1, a neuroendocrine gene critical for stress response, has shown unique evolutionary changes in humans compared to other primates. These changes are linked to critical functional domains that regulate neuropeptide activity.

Research Findings

Using CodeXome, we identified that ADCYAP1 has undergone specific amino acid substitutions in humans, particularly in regions known as Intrinsically Disordered Regions (IDRs). These regions play a vital role in neuropeptide transport and signaling in the central nervous system.

Impact

This evolutionary insight provides a new understanding of how human stress responses have evolved, pointing to new therapeutic targets for treating PTSD and other neurological disorders. The findings suggest that targeted modulation of these IDRs could influence the effectiveness of treatments for stress-related conditions.

CASE STUDY FROM CORNERSTONE GENOMICS

Reclassifying Variants of Unknown Significance

Traditional methods of variant classification often leave many questions unanswered, with numerous genetic variants categorized as uncertain. CodeXome’s approach changes this by providing a broader evolutionary context, leading to more accurate and reliable classifications.

BRCA1 VUS Reclassification

In our studies, over 30% of BRCA1 Variants of Uncertain Significance were reclassified using CodeXome’s evolutionary data. This reclassification has significant implications for patient care, enabling more precise risk assessments and tailored interventions.

Evolutionary Context

CodeXome’s analysis includes comparing genetic variants against a deep database of evolutionary changes. By examining how specific variants have been conserved or altered across species, CodeXome can provide insights into their functional significance, which is critical for understanding their role in disease.

Setting a New Standard in Genomic Research

Evolutionary genomics approach

CodeXome integrates evolutionary data from a wide range of primate genera, providing a more meaningful interpretation of genetic variants than traditional population-based methods.

Population agnostic analysis

Focuses on evolutionary history rather than modern population constraints, offering insights that transcend current human genetic boundaries.

Real-time evolutionary reclassification

Provides real-time reclassification of genetic variants using current evolutionary data, ensuring the most accurate information for research and clinical decisions.

Comprehensive gene and protein analysis

CodeXome examines the broader evolutionary story of genes and proteins, not just variant identification, offering a holistic view of genetic function.

Accurate representation of evolutionary data

Presents clear, accurate representations of genetic variations across relevant primate genera, avoiding the incomplete interpretations of less comprehensive approaches.

Breaking the population-based mold

Moves beyond the traditional focus on population-based analysis, prioritizing evolutionary insights to deliver groundbreaking findings.

Integrate seamlessly, analyze efficiently

CodeXome is designed to fit seamlessly into your existing research workflows, providing robust, high-quality data and analysis tools that enhance your research from start to finish.

Data Upload

Upload Variant Call Format (VCF) files from individual patients or cohorts to the secure CodeXome cloud. Data is aligned with the human reference genome (HG38) and CodeXome’s dataset of 55 primate genera.

Cross-Referencing

The platform cross-references uploaded data with major genomic databases like gnomAD, UniProt, and ClinVar, alongside CodeXome’s proprietary evolutionary datasets, ensuring comprehensive analysis.

Reclassifying Variants

Utilizing evolutionary data, CodeXome reclassifies Variants of Uncertain Significance (VUS), providing real-time, updated variant interpretations with greater confidence.

Protein Studies

Analyze the evolutionary history of variants to predict their impact on protein function, identifying changes that may be benign, pathogenic, or therapeutically significant.

Genetic changes endorsed by nature, with no human intervention.