Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Hocking, LJ; Andrews, C; Armstrong, C; Ansari, M; Baty, D; Berg, J; Bradley, T; Clark, C; Diamond, A; Doherty, J; Lampe, A; McGowan, R; Moore, DJ; O'Sullivan, D; Purvis, A; Santoyo-Lopez, J; Westwood, P; Abbott, M; Williams, N; Scottish Genomes Partnership; Aitman, TJ; Miedzybrodzka, Z

Miedzybrodzka, Z (通讯作者),Univ Aberdeen, Inst Med Sci, Aberdeen, Scotland.;Miedzybrodzka, Z (通讯作者),NHS Grampian, North Scotland Med Genet Serv, Polwarth Bldg,Foresterhill, Aberdeen, Scotland.;Aitman, TJ (通讯作者),Univ Edinburgh, Inst Genet & Canc, Ctr Genom & Expt Med, Edinburgh, Scotland.;Miedzybrodzka, Z (通讯作者),NHS Grampian, North Scotland Reg Genet Serv, Ashgrove House,Foresterhill, Aberdeen, Scotland.

EUROPEAN JOURNAL OF HUMAN GENETICS, 2023; 31 (2): 231

Abstract

NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing f......

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