Article
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
European journal of human genetics : EJHG - 1 Feb 2023
Hocking Lynne J, Andrews Claire, Armstrong Christine, Ansari Morad, Baty David, Berg Jonathan, Bradley Therese, Clark Caroline, Diamond Austin, Doherty Jill, Lampe Anne, McGowan Ruth, Moore David J, O'Sullivan Dawn, Purvis Andrew, Santoyo-Lopez Javier, Westwood Paul, Abbott Michael, Williams Nicola, Aitman Timothy J, Miedzybrodzka Zosia
Abstract excerpt
NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing for in rare, inherited conditions. Four regional services recruited 999 individuals from 394 families in 200 rare phenotype categories, with negative historic genetic testing. Genome sequencing was performed at Edinburgh Genomics, and phenotype and sequence data were...
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