World Rare Diseases Day 2023

Monika Opalek, PhD

February 28, 2023

Rare Disease Day presented by: RareDiseaseDay is a global campaign to raise awareness about rare diseases and the importance of early and accurate diagnosis. Many rare diseases are genetic in nature, which means that genetic testing is an important tool in the diagnostic odyssey. Early and accurate diagnosis of rare diseases is crucial for improving patient outcomes. By identifying rare disease risks, patients and their healthcare providers can develop personalized treatment plans and take proactive measures to manage symptoms and improve quality of life.

Intelliseq is proud to support #RAREDISEASEDAY and the important work being done to improve the diagnosis and treatment of rare diseases. We have developed workflows to seamlessly convert raw NGS data into clinically relevant information specifically designed for hereditary and rare disease screening. On the iFlow platform, you can upload your genetic data in .fastq or .vcf file formats with just a few clicks and receive comprehensive reports with insights into your risk for hereditary diseases.

Our workflows: WES/WGS hereditary disorders ACMG report (input: .fastq / .vcf) identify pathogenic variants (according to the ACMG classification) with the ready-to-use or custom gene panels and generate a full clinical report.

Analysis of SNVs (ang. Single Nucleotide Variants; Single Nucleotide Polymorphism) and INDELs (ang. short INsertions and DELetions) in selected genes (ready-to-use or custom gene panels). The raw reads are mapped to and analyzed with the human reference genome GRCh38. Variants are called using GATK best practices. The identified variants are assessed using an annotation pipeline that implements ACMG recommendations. Databases used for annotation include: gnomAD, 1000 Genomes, ClinVar and HPO.

We invite diagnostic laboratories, hospitals and individuals who have their own raw DNA data samples (in .fastq or .vcf file format) to try our iFlow platform. Sign up for a demo with one of our experts to learn more about our solutions for rare and hereditary diseases.

<h2>Want to know more?</h2>

Want to know more?

Get in touch with us.