X Zhang, PI Theotokis, N Li, C Wright, KE Samocha, N Whiffin, JS Ware Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery medRxiv [DOI]
X Zhang, M Wakeling, J Ware, N Whiffin Annotating high-impact 5’untranslated region variants with the UTRannotator Bioinformatics [DOI] [UTRannotator]
X Zhang et al. Disease-specific variant pathogenicity prediction significantly improves clinical variant interpretation in inherited cardiac conditions. Genetics in Medicine [DOI] [CardioBoost]
X Zhang, E Minikel, A O’Donnell-Luria, D MacArthur, J Ware, B Weisburd. ClinVar Data Parsing . Wellcome Open Research [DOI][Code]
Y Dong, X Zhang*, M Xie, B Arefnezhad et al. Reference genome of wild goat (capra aegagrus) and sequencing of goat breeds provide insight into genic basis of goat domestication. BMC genomics [DOI] (* co-first author)
K McGurk, X Zhang, et.al (2023). The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings. American Journal of Human Genetics [DOI]
N Whiffin, KJ Karczewski, X Zhang, S Chothani, et al. Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals. Nature Communications [DOI] [Code]
M Maiolo, X Zhang, M Gil, M Anisimova. Progressive multiple sequence alignment With indel evolution. BMC bioinformatics [DOI]
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