Comparison of Mendeliome exome capture kits for use in clinical diagnostics

• Main Authors: Reuben J. Pengelly, Daniel Ward, David Hunt, Christopher Mattocks, Sarah Ennis
• Format: Article
• Language: English
• Published: Nature Publishing Group 2020-02-01
• Series: Scientific Reports
• Online Access: https://doi.org/10.1038/s41598-020-60215-y

Abstract Next generation sequencing has disrupted genetic testing, allowing far more scope in the tests applied. The appropriate sections of the genome to be tested can now be readily selected, from single mutations to whole-genome sequencing. One product offering within this spectrum are focused exomes, targeting ~5,000 genes know to be implicated in human disease. These are designed to offer a flexible platform offering high diagnostic yield with a reduction in sequencing requirement compared to whole exome sequencing. Here, we have undertaken sequencing of control DNA samples and compare two kits, the Illumina TruSight One and the Agilent SureSelect Focused Exome. Characteristics of the kits are comprehensively evaluated. Despite the larger design region of the Agilent kit, we find that the Illumina kit performs better in terms of gene coverage, as well as coverage of clinically relevant loci. We provide exhaustive coverage statistics for each kit to aid the assessment of their suitability and provide read data for control DNA samples to allow for bioinformatic benchmarking by users developing pipelines for these data.