Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Molina-Ramirez, LP; Kyle, C; Ellingford, JM; Wright, R; Taylor, A; Bhaskar, SS; Campbell, C; Jackson, H; Fairclough, A; Rousseau, A; Burghel, GJ; Dutton, L; Banka, S; Briggs, TA; Clayton-Smith, J; Douzgou, S; Jones, EA; Kingston, HM; Kerr, B; Ealing, J; Somarathi, S; Chandler, KE; Stuart, HM; Burkitt-Wright, EMM; Newman, WG; Bruce, IA; Black, GC; Gokhale, D

Black, GC (通讯作者),Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, Lancs, England.;Black, GC (通讯作者),Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, North West Genom Lab Hub, Manchester, Lancs, England.

JOURNAL OF MEDICAL GENETICS, 2022; 59 (4): 393

Abstract

Purpose The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of varian......

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