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Article

Comparison of Mendeliome exome capture kits for use in clinical diagnostics.

Scientific reports - 24 Feb 2020

Pengelly Reuben J, Ward Daniel, Hunt David, Mattocks Christopher, Ennis Sarah

Abstract excerpt

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...

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Identifiers

PMID: 32094380
DOI: 10.1038/s41598-020-60215-y
PMCID: PMC7039898

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