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Genomize and Genomenon Partner to Advance Genomic Insights

News & EventsMarch 27, 2025

Variants annotated as VUS constitute the largest portion of human genomic variations in which 47.75% of the more than 2 million variants are annotated as VUS in ClinVar, a public archive of reports on the relationships among human variations and phenotypes.

The Dream of Human Geneticists: A World Without Variants of Uncertain Significance

ArticlesJanuary 11, 2024

"Rare diseases'' may seem straightforward, affecting a small percentage of the population, although definitions of rarity differ globally. For instance, the U.S. defines these 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.

Are Rare Diseases Really Rare?

ArticlesDecember 12, 2023

Genome sequencing costs

How Decreasing Genome Sequencing Costs Effects Clinical Genetics and Precision Medicine

ArticlesApril 28, 2023

Fastq vs vcf

Why FastQ is a Better Starting Point for Clinical NGS Analysis?

ArticlesJuly 19, 2022

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