Email  /  Google Scholar

Xiaolei Zhang 张小蕾

I am passionate about advancing healthcare using computational and statistical approaches. I am currently a Postdoctoral Fellow based at European Bioinformatics Institute (Hinxton, UK). I am also awared as a Borysiewicz Interdisplinary Fellow (University of Cambridge) and Junior Research Fellow (Darwin College, University of Cambridge). Previously I studied Computational Biology and Bioinformatics in University of Science and Technology of China, ETH Zurich and finished my PhD in Imperial College London in the study of statistical methods for clinical genome interpretation with specific application in inherited cardiac conditions.

Selected Publications

Laura Harris, Ellen M McDonagh, Xiaolei Zhang*,et al.Tomas Fitzgerald. Genome-wide association testing beyond SNPs. Nature Reviews Genetics [DOI](* co-first author)

X Zhang, PI Theotokis, N Li, C Wright, KE Samocha, N Whiffin, JS Ware. Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery Genome Medicine [DOI][HMC]

X Zhang, M Wakeling, J Ware, N Whiffin Annotating high-impact 5’untranslated region variants with the UTRannotator Bioinformatics [DOI] [Code]

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]

Projects

Here is a collection of code repositories I've worked on

(I like this minimalist website)