Publications

Below is a list of publications that are part of the TGMI. More information can also be found on the Wellcome Open Research Gateway.

2020

Gunning AC, Fryer V, Fasham J, Crosby AH, Ellard S, Baple EL, Wright CF (2020) Assessing performance of pathogenicity predictors using clinically relevant variant datasets, J Med Genet doi:10.1136/jmedgenet-2020-107003

Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis P, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies J, Semsarian C, Ingles J, O’Regan DP, Aguib Y, Yacoub MH, Cook SA, Barton PJR, Bottolo L, Ware JS, (2020) Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions, Genet Med, 23 (1): 69-79

Zhang X, Wakeling M, Ware J, Whiffin N (2020) Annotating high-impact 5’untranslated region variants with the UTRannotator, Bioinformatics, 14

Molina Ramirez LP, Lenassi E, Ellingford JM, Sergouniotis P, Ramsden S, Bruce IA, Black GCM (2020) Establishing Genotype-Phenotype Correlation in USH2A-related disorders to Personalise Audiological Surveillance and Rehabilitation, Otol Neurotol, 41

2019

Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI (2019), Clinical utility of genetic testing in 201 preschool children with inherited eye disorders, Genet Med, PMCID 31848469

Wright C, Ware JS, Lucassen AM, Hall A, Middleton A, Rahman N, Ellard S, Firth HV (2019) Genomic variant sharing: a position statement, Wellcome Open Res, 4:22

Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F, Fitzpatrick DR (2019) Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP Nat Commun Volume 10 p.2373