“We describe how PacBio HiFi long-read sequencing addresses specific blind spots, how we integrated HiFi-based analysis into the Genomize SEQ Platform, and how the resulting pipeline performs on the variant classes that account for most of the diagnostic gap.” Short-read sequencing has transformed clinical genomics, with decreasing costs and faster turnaround making genome and exome…
“We present an innovative Next Generation Sequencing (NGS) data analysis feature in the SEQ Platform that integrates an advanced algorithm to create a highly efficient variant prioritization pipeline with a 97% successful variant prioritization rate. This transformative solution will streamline diagnostic procedures and accelerate the discovery of clinically relevant genetic variants, enhancing the precision and…
“Alternative splicing is a common and essential mechanism seen in ~94% of human genes. With our Extended Annotation feature, we provide ACMG classifications for all alternative isoforms. Extended Annotation feature provides clinically relevant alterations that can affect diagnosis and treatment in NGS data analysis.” Alternative splicing allows a single gene to produce multiple protein isoforms…
Delve into the impact of sequencing depth and cohort size on NGS CNV analysis, exploring the relationship between these factors and the sensitivity and specificity of detecting copy number variations in genetic studies.
Discover SEQ’s Automated Variant Classification Tool, which incorporates ACMG’s Standards and Guidelines, and learn how the additional VUS+ and VUS++ classifications can improve variant interpretation and prioritization.
