Background High-throughput sequencing has rapidly become an essential part of precision
cancer medicine. But validating results obtained from analyzing and interpreting genomic …

Background The low concordance between different variant calling methods still poses a
challenge for the wide-spread application of next-generation sequencing in research and …

To evaluate and compare the performance of variant calling methods and their confidence
scores, comparisons between a test call set and a “gold standard” need to be carried out …

Summary The precisionFDA Truth Challenge V2 aimed to assess the state of the art of
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …

Publications comparing variant caller algorithms present discordant results with
contradictory rankings. Caller performances are inconsistent and wide ranging, and …

Benchmark small variant calls are required for developing, optimizing and assessing the
performance of sequencing and bioinformatics methods. Here, as part of the Genome in a …

Following variant calling and annotation, accurate variant filtering is a crucial step to extract
meaningful information from sequencing data and to investigate disease aetiology …

Background The advent and ongoing development of next generation sequencing
technologies (NGS) has led to a rapid increase in the rate of human genome re-sequencing …

The standardization and performance testing of analysis tools is a prerequisite to
widespread adoption of genome-wide sequencing, particularly in the clinic. However …

Genomic benchmark datasets are essential to driving the field of genomics and
bioinformatics. They provide a snapshot of the performances of sequencing technologies …