The Replicon Genetics Synthetic Reads Generator can be customised to generate DNA sequence reads containing any variants required. These may be inserted into standard variant-calling bioinformatics pipelines to test the quality of that processing.
The place of the Synthetic Reads Generator in validating diagnostic tests
Next Generation Sequencing (NGS) tests are an increasingly used method for patient diagnosis and personalised medicine.
NGS Quality Control Data are important to ensure that errors are not being made, data are not missed, and that results from different laboratories are comparable. In this digital age, they are as important as standard-weight or size-measurements are to shop-bought goods.
As part of NGS test-evaluation and validation steps: all elements of the pipeline should be critically assessed to ensure they are functioning as expected, and this includes the data analysis process.
The Replicon Genetics Synthetic Reads Generator can provide sequence reads containing any variants required without the need for tissue samples leading to faster development times. It provides data for validation of previously-unseen sequence variants and provides a basis for lab-to-lab consistency.
The Synthetic Reads Generator Help describes a number of optional features, such as exome-only or CDS-only reads, duplex reads and CIGAR annotation.
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