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.