In silico approaches for next-generation sequencing (NGS) data modeling have utility in the
clinical laboratory as a tool for clinical assay validation. In silico NGS data can take a variety …

Context.—Clinical next-generation sequencing (NGS) is being rapidly adopted, but analysis
and interpretation of large data sets prompt new challenges for a clinical laboratory setting …

Lack of reliable reference samples containing different mutations of interest across large
sets of disease-relevant loci limits the extensive validation clinical next-generation …

180 JALM| 180–182| 09: 01| January 2024 as input, it does not assess the performance of
sequence alignment software unless the mutagenized BAM files are converted to FASTQ …

Context.—In 2016, the College of American Pathologists (CAP) launched the first next-
generation sequencing (NGS) in silico bioinformatics proficiency testing survey to evaluate …

Context.—Most current proficiency testing challenges for next-generation sequencing
assays are methods-based proficiency testing surveys that use DNA from characterized …

Next-generation sequencing is increasingly being adopted as a valuable method for the
detection of somatic variants in clinical oncology. However, it is still challenging to reach a …

Bioinformatics pipelines are an integral component of next-generation sequencing (NGS).
Processing raw sequence data to detect genomic alterations has significant impact on …

The advantages of massively parallel sequencing are quickly being realized through the
adoption of comprehensive genomic panels across the spectrum of genetic testing. Despite …

Quality assurance for clinical next-generation sequencing (NGS)–based assays is difficult
given the complex methods and the range of sequence variants such assays can detect. As …