Comparison of Mendeliome exome capture kits for use in clinical diagnostics
Comparison of Mendeliome exome capture kits for use in clinical diagnostics
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.
Pengelly, Reuben
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Ward, Daniel
8343934a-ac4c-4042-ad30-93270144f77d
Hunt, David
a744ddd0-df7d-44f7-bb9c-c91e188c3bb3
Mattocks, Christopher
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Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
24 February 2020
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Ward, Daniel
8343934a-ac4c-4042-ad30-93270144f77d
Hunt, David
a744ddd0-df7d-44f7-bb9c-c91e188c3bb3
Mattocks, Christopher
2d943111-cfdf-4f0d-9ecc-0737e541fe36
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Pengelly, Reuben, Ward, Daniel, Hunt, David, Mattocks, Christopher and Ennis, Sarah
(2020)
Comparison of Mendeliome exome capture kits for use in clinical diagnostics.
Scientific Reports, 10 (1), [3235].
(doi: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.
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s41598-020-60215-y
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Accepted/In Press date: 10 February 2020
Published date: 24 February 2020
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© 2020, The Author(s).
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Local EPrints ID: 438539
URI: http://eprints.soton.ac.uk/id/eprint/438539
ISSN: 2045-2322
PURE UUID: a9bc3716-ad08-4c6b-8c2c-456e6d64609b
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Date deposited: 13 Mar 2020 17:41
Last modified: 17 Mar 2024 05:19
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Daniel Ward
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David Hunt
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Christopher Mattocks
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