Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …

Certified RNA reference materials are indispensable for assessing the reliability of RNA
sequencing to detect intrinsically small biological differences in clinical settings, such as …

Background Oncopanel genomic testing, which identifies important somatic variants, is
increasingly common in medical practice and especially in clinical trials. Currently, there is a …

Abstract The 16th Workshop on Recent Issues in Bioanalysis (16th WRIB) took place in
Atlanta, GA, USA on September 26–30, 2022. Over 1000 professionals representing …

Introduction Next-generation sequencing (NGS) enables simultaneous detection of
actionable somatic variants and estimation of genomic signatures such as tumor mutational …

The MicroArray and Sequencing Quality Control (MAQC) consortium is a FDA-led,
community-wide effort to evaluate the use of genomic technologies in clinical applications …

Background Comprehensive molecular diagnostics are highly dependent on the technical
performance of next-generation sequencing (NGS) pipelines, which are assessed by data …

Background Clinical laboratories routinely use formalin-fixed paraffin-embedded (FFPE)
tissue or cell block cytology samples in oncology panel sequencing to identify mutations that …

Tumor mutational burden (TMB), when at a high level, is an emerging indicative factor of
sensitivity to immune checkpoint inhibitors. Previous studies have shown that the more …

Recently we reported the accuracy and reproducibility of circulating tumor DNA (ctDNA)
assays using a unique set of reference materials, associated analytical framework, and …