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


Caswell RC, Gunning AC, Owens MM, Ellard SWright CF 2022 Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory, Genome Medicine volume 14, Article number: 77 (2022)

Beaumont RN, Wright CF 2022 Estimating diagnostic noise in panel-based genomic analysis in a new tab)

Zhang X, Theotokis PI, Li N, the SHaRe Investigators, Wright CF, Samocha KE, Whiffin N, Ware JS 2022 Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery

DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IU, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL. 2022 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources doi:10.1101/2022.01.03.21268593.

Morales J, Pujar S, Loveland JE, Astashyn A, Bennett R, Berry A, Cox E, Davidson C, Ermolaeva O, Farrell CM, Fatima R, Gil L, Goldfarb T, Gonzalez JM, Haddad D, Hardy M, Hunt T, Jackson J, Joardar VS, Kay M, Kodali VK, McGarvey KM, McMahon A, Mudge JM, Murphy DN, Murphy MR, Rajput B, Rangwala SH, Riddick LD, Thibaud-Nissen F, Threadgold G, Vatsan A, Wallin C, Webb D, Flicek P, Birney E, Pruitt KD, Frankish A, Cunningham F, Murphy TD (2022) A Joint NCBI and EMBL-EBI Transcript Set for Clinical Genomics. Nature

McGurk KA, Kasapi M and Ware JS. Effect of taurine administration on symptoms, severity, or clinical outcome of dilated cardiomyopathy and heart failure in humans: a systematic review [version 2; peer review: 1 approved]. Wellcome Open Res 2022, 7:9

Foreman J, Brent S, Perrett D, Bevan A, Hunt S, Cunningham F, Hurles M, Firth H (2022) DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. Human Mutation,


Hunt SE, Moore B, Amode RM, Armean IM, Lemos D, Mushtaq A, Parton A, Schuilenburg H, Szpak M, Thormann A, Perry E, Trevanion SJ, Flicek P, Yates AD, Cunningham F. 2021 Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial. doi:10.1002/humu.24298.

McGurk KA, Zheng SL, Henry A, Josephs K, Edwards M, de Marvao A, Whiffin N, Roberts A, Lumbers TR, O’Regan DP, Ware JS (2021) Correspondence on “ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)”, Genet Med

Lenassi E, Carvalho A, Thormann A, Fletcher T, Hardcastle C, Hunt SE, Sergouniotis PI, Michaelides M, Webster AR, Cunningham F, Ramadan S, FitzPatrick DR, Black GCM, Ellingford JM (2021) EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders, Preprint at medRxiv doi:10.1101/2021.07.23.21261017

Morales J, McMahon AC, Loveland J, Perry E, Frankish A, Hunt S, Armean IM, Flicek P, Cunningham F (2021) The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements, Mol Genet Genomic Med doi:10.1002/mgg3.1786

Yates T, Lain A, Campbell J, Simpson T, FitzPatrick D (2021) Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders, medRxiv,

Gunning AC, Fryer V, Fasham J, Crosby AH, Ellard S, Baple EL, Wright CF (2021) 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

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 (2020), 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