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Recent Articles

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 (VUS)

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

Some of our White Papers

WP VP featured image

AI-Driven NGS Data Analysis: A Variant Prioritization Pipeline for Precision Medicine

White PapersJune 7, 2023

Extended Annotation Wp Featured Image 2

SEQ Platforms’s Extended Annotation: A Solution for Alternative Isoforms in NGS Data Analysis

White PapersMay 8, 2023

White Paper CNV

The Effects of Sequencing Depth and Cohort Size on NGS CNV Analysis

White PapersFebruary 28, 2021

White Paper VUS

SEQ Platform’s Automated Variant Classification Tool: Highlighting VUS+ and VUS++ Classification

White PapersDecember 4, 2019

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