The University of Southampton
University of Southampton Institutional Repository
Warning ePrints Soton is experiencing an issue with some file downloads not being available. We are working hard to fix this. Please bear with us.

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

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.
2045-2322
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
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).

Record type: Article

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.

Text
301899_1_merged_1580847797 - Accepted Manuscript
Available under License Creative Commons Attribution.
Download (1MB)
Text
s41598-020-60215-y - Version of Record
Available under License Creative Commons Attribution.
Download (1MB)
Text
Supplementary figure 1
Download (244kB)
Spreadsheet
Supplementary data
Download (1MB)

More information

Accepted/In Press date: 10 February 2020
Published date: 24 February 2020

Identifiers

Local EPrints ID: 438539
URI: http://eprints.soton.ac.uk/id/eprint/438539
ISSN: 2045-2322
PURE UUID: a9bc3716-ad08-4c6b-8c2c-456e6d64609b
ORCID for Reuben Pengelly: ORCID iD orcid.org/0000-0001-7022-645X
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869

Catalogue record

Date deposited: 13 Mar 2020 17:41
Last modified: 26 Nov 2021 07:15

Export record

Altmetrics

Contributors

Author: Reuben Pengelly ORCID iD
Author: Daniel Ward
Author: David Hunt
Author: Christopher Mattocks
Author: Sarah Ennis ORCID iD

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×