Workflow from Scientific Research

Variant simulation workflow. With “sim,” ultra-low-frequency variants in Variant Call Format (VCF) are edited into pre-existing sequencing read alignments (BAM). Edited reads (FASTQ) and true positive variants (Truth) are output with expected counts and frequencies. The “call” workflow B extracts quality features during variant calling, which may be used for assay design validation, software parameter tuning, and machine learning-based error correction.

DOI