“Reliable CNV interpretation runs three checks in order. Is the call real, is it rare, and what does it mean clinically. Each check draws on different evidence, scattered across separate tools. SEQ Platform runs all three: it calls each variant, adds an internal CNV database the public sources don’t cover, and applies ACMG/ClinGen classification, so…
“While short-read sequencing has provided the foundation for modern genetics, its inherent blind spots in repetitive and structural regions present a clear ceiling in a first-line diagnostic setting. Long-read sequencing represents a necessary evolution beyond second-line testing, providing a more comprehensive, phased, and epigenetically aware view of the human genome. The maturation of interpretation platforms…
Advances in variant classification, computational tools, and collaborative data-sharing improve our diagnostic capabilities to resolve variants of uncertain significance (VUSs); genetic alterations that have unknown effects on patients’ health. These variants impact the decisiveness of genetic tests negatively by causing inconclusive reports.
Rare diseases” may seem straightforward, affecting a small percentage of the population, although definitions of rarity differ globally. For instance, the U.S. defines rare diseases as affecting fewer than 200,000 people, while the EU uses a prevalence criterion of fewer than 1 in 2,000. Additionally, rarity can be context-specific, varying across demographics and regions, emphasizing the intricate nature of these conditions.
The decreasing costs of genome sequencing are transforming clinical genetics and precision medicine by making genetic testing more affordable and accessible. Discover the factors behind these cost reductions and how they impact clinical genetics and the future of medicine in our latest article.
Get insight about why FastQ file format is a superior starting point for clinical NGS data analysis compared to VCF. Take a look at the advantages of using raw sequencing data, including data completeness, customizable analysis, and the ability to detect novel genetic variants crucial in clinical contexts.
