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Recent Blog Articles

Infographic comparing germline and somatic variants by origin and inheritance and cellular distribution.

Somatic Variant Interpretation in Cancer Genomics: Beyond the Variant Call

ArticlesAugust 26, 2026

Three-panel diagram showing sequencing read depth for copy number variation. Normal has equal read coverage from both alleles, single copy loss shows reduced coverage from one missing allele, and single copy gain shows increased coverage due to an extra copy of one allele. A legend distinguishes reads from allele 1 (orange) and allele 2 (blue). CNV

Cohort CNV Analysis: From Confident Call to Clinical Interpretation

ArticlesJuly 22, 2026

Comparative infographic showing the strengths and limitations of short-read and long-read sequencing technologies across six genomic analysis categories: SNVs and small indels, structural variants, tandem repeat expansions, phasing (haplotypes), DNA methylation, and challenging medically relevant genes. The table outlines how short-read sequencing may face limitations such as false negatives, limited repeat sizing, trio-based phasing requirements, and paralog ambiguity, while long-read sequencing enables precise breakpoint detection, motif detection, read-level phasing, single-workflow methylation analysis, and paralog-aware resolution. A final row summarizes the diagnostic consequences associated with each limitation.

Closing the Diagnostic Gap: What Long-Read Sequencing Adds in Rare Disease

ArticlesMay 13, 2026

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

White Papers

FLT3-ITD Detection in AML: ITD-Aware Calling in SEQ Platform, Benchmarked Against Fragment Analysis

White PaperOctober 13, 2026

Long-read Sequencing for Rare Disease: PacBio-HiFi Pipeline Integrated into SEQ Platform

White PaperJune 24, 2026

WP VP featured image 1

SEQ Platform’s Variant Prioritization Pipeline for Precision Medicine

White PaperJune 7, 2023

Extended Annotation Wp Featured Image 2

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

White PaperMay 8, 2023

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