NGS-eval: NGS Error analysis and novel sequence VAriant detection tooL

Strand NGS Variant Caller A Benchmarking Study

ngsCAT Capture Assessment Tool for NGS data

Lumenogix NGS SNP and INDEL detection Mutation Analysis

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.

To provide a useful community resource for orthogonal assessment of NGS analysis software, we present the ICR142 NGS validation series. The dataset includes high-quality exome sequence data from 142 samples together with Sanger sequence data at 730 sites; 409 sites with variants and 321 sites at which variants were called by an NGS analysis tool, but no variant is present in the corresponding S...

Understanding the Basics of NGS: From Mechanism to Variant Calling

Identifying disease-causing mutations in DNA has long been the goal of genetic medicine. In the last decade, the toolkit for discovering DNA variants has undergone rapid evolution: mutations that were historically discovered by analog approaches like Sanger sequencing and multiplex ligation-dependent probe amplification ("MLPA") can now be decoded from a digital signal with next-generation sequ...