Article

A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service

2023-02-01

Abstract excerpt

Genome sequencing is now available as a clinical test on the National Health Service (NHS) through the Genome Medicine Service (GMS). The GMS have set out an analytical strategy that predominantly filters genome data on a pre-selected gene panel(s). Whilst this approach reduces the number of variants requiring assessment by reporting laboratories, pathogenic variants outside of the gene panel applied may be missed...

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Literature Corpus work: a8846ede-d373-588e-8500-18c8a4031865
DOI: 10.1101/2023.01.31.23285025

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