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PRODUCT

Bioinformatics and Genomics

Generate and test hypotheses for genes and pathways as potential drug targets or  biomarkers, explore patient sub-segmentation, and more

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1,800 sequences for PAH and Controls WES DNA

Triaxia’s Bioinformatic and Genomic capabilities

One Of A Kind Data
TriAxia is the only source in the world for this combination and scale of longitudinalty of clinical data for Pulmonary Hypertension and rare Interstitial Lung Diseases
Target Validation
Target validation and exploration of genetic components of disease pathophysiology
ID Biomarkers
Identification of biomarkers of responsiveness
Deep-Phenotyping
Sub-segmentation of patient populations via deep-phenotyping
Gene Scans
Gene scans of interest across an entire case/disease population

Industry standard QA processes across our molecular data supply chain

Isolate RNA & DNA

RNA & DNA isolated from samples via standard protocols

Samples are of whole blood drawn during RV catherization in the wedge position

Sample QA

ALL:
  • Fluorometric quantitation (Qubit BR DNA or RNA)
RNA:
  • Bioanalyzer for RQN/RIN (RNA 6000 Nano)
DNA:
  • Bioanalyzer size analysis to confirm highly intact DNA (High Sens. DNA)

Library Prep

ALL:
  • Unique Dual Indexes across all libraries
RNA:
  • TruSeq Total Stranded RNA (Ribo Zero Plus) library prep
DNA:
  • Nextera Flex for Enrichment with Exome probes

Library QC

Fragment analyzer for insert size qualification Picogreen assay for quantitation

Sequencing

NovaSeq6000 for primary data generation MiSeqsequencing as QC measure for concentration and pooling

Post- Sequencing QA and Alignment

ALL:
  • FASTQC
  • MultiQC
  • Read Count assessment
RNA:
  • SALMON workflow
DNA:
  • DRAGEN workflow

VCF & BAM Generation & Annotation

DNA:
  • DRAGEN workflow
  • Post-hoc filtration for supporting reads
  • Cohort-based filtering for sample issue detection
  • Annotation handled via TRAP ingestion of VCF
RNA:
  • SALMON counts are normalized, batch corrected, replicate averaged, and annotated for export to TRAP
PRODUCTS

Powering the discovery, development, and deployment of new rare disease therapies

Real World Evidence + Advanced Analytics
 Bespoke dataframes with HEOR services including advanced traditional and AI-enabled analytics
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Clinical Trial Support
Identify and recruit patients as clinical trial participants; create virtual control groups to replace or supplement trial controls
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