• Queen Mary University of London
  • Barts Health NHS
  • Bradford NHS
  • Manchester Uni

Scientific Publications

(last updated 19 May 2023)

 

Polygenic score informed by genome-wide association studies of multiple ancestries and related traits improves risk prediction for coronary artery disease

manuscript accepted (Nature Medicine) 2023 & https://www.medrxiv.org/content/10.1101/2023.03.03.23286649v1

 

Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom

Scientific Reports 2023,  https://doi.org/10.1038/s41598-023-33391-w

 

A second update on mapping the human genetic architecture of COVID-19

(Genes & Health contributed as one of many international cohorts to the multiple phenotype analyses of the COVID-19 Host Genetics Initiative)

manuscript accepted (Nature), 2023 & https://www.medrxiv.org/content/10.1101/2022.12.24.22283874v2

 

Influence of autozygosity on common disease risk across the phenotypic spectrum

manuscript submitted, 2023 & https://www.medrxiv.org/content/10.1101/2023.02.01.23285346v1

 

Genome-wide meta-analysis identifies novel maternal risk variants and enables polygenic prediction of preeclampsia and gestational hypertension

manuscript accepted (Nature Medicine), 2023 & https://www.medrxiv.org/content/10.1101/2022.11.30.22282929v1

 

Multi-ancestry GWAS of major depression aids locus discovery, fine-mapping, gene prioritisation, and causal inference

manuscript submitted, 2023 & https://www.biorxiv.org/content/10.1101/2022.07.20.500802v1

 

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Genome Biology 2022. https://doi.org/10.1186/s13059-022-02837-1

 

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

(Genes & Health contributed as one of 24 international biobanks)

Cell Genomics 2022. DOI https://doi.org/10.1016/j.xgen.2022.100192

 

A first update on mapping the human genetic architecture of COVID-19

(Genes & Health contributed as one of many international cohorts to the multiple phenotype analyses of the COVID-19 Host Genetics Initiative)

Nature 2022. DOI: https://doi.org/10.1038/s41586-022-04826-7

 

Whole genome sequencing reveals host factors underlying critical Covid-19.

(Genes & Health contributed as one of many international cohorts to the multiple phenotype analyses of the COVID-19 Host Genetics Initiative release 6)

Nature 2022. DOI https://doi.org/10.1038/s41586-022-04576-6

 

Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistanis and Bangladeshis

Nature Communications 2022. DOI  https://doi.org/10.1038/s41467-022-32095-5 

 

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

American Journal of Human Genetics 2022. DOI https://doi.org/10.1016/j.ajhg.2022.06.012

 

Harnessing the power of polygenic risk scores to predict type 2 diabetes and its subtypes in a high-risk population of British Pakistanis and Bangladeshis in a routine healthcare setting

PLOS Medicine 2022. DOI https://doi.org/10.1371/journal.pmed.1003981

 

The power of genetic diversity in genome-wide association studies of lipids.

Nature 2021. DOI https://doi.org/10.1038/s41586-021-04064-3

 

MC3R links nutritional state to childhood growth and the timing of puberty.

Nature 2021. DOI https://doi.org/10.1038/s41586-021-04088-9

 

Mapping the human genetic architecture of COVID-19.

(Genes & Health contributed as one of many international cohorts to the multiple phenotype analyses of the COVID-19 Host Genetics Initiative)

Nature 2021 https://doi.org/10.1038/s41586-021-03767-x 

 

Fine-scale population structure and demographic history of British Pakistanis

Nature Communications 2021 https://doi.org/10.1038/s41467-021-27394-2

 

The major genetic risk factor for severe COVID-19 is inherited from Neanderthals.

(Genes & Health contributed as one of 8 international cohorts to the hospitalised inpatient phenotype analysis of the COVID-19 Host Genetics Initiative)

Nature 2020. DOI https://doi.org/10.1038/s41586-020-2818-3

 

Genetic mechanisms of critical illness in Covid-19.

(Genes & Health contributed as one of 8 international cohorts to the hospitalised inpatient phenotype analysis of the COVID-19 Host Genetics Initiative)

Nature 2020. DOI https://doi.org/10.1038/s41586-020-03065-y

 

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations.

Cell 2020 Sept 3. DOI https://doi.org/10.1016/j.cell.2020.06.045

 

Genomewide Association Study of Severe Covid-19 with Respiratory Failure.

(Genes & Health contributed as one of 8 international cohorts to the hospitalised inpatient phenotype analysis of the COVID-19 Host Genetics Initiative)

New England Journal of Medicine 2020 Jun 17. DOI https://doi.org/10.1056/NEJMoa2020283

 

Evaluating potential drug targets through human loss-of-function genetic variation.

Nature 2020 May;581(7809):459-464. DOI https://doi.org/10.1101/530881

 

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.

eLife 2020;9:e54363. DOI https://doi.org/10.7554/eLife.54363

 

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study in people of British-Bangladeshi and -Pakistani heritage.

International Journal of Epidemiology 2019 Feb, 49(1), 20–21i. DOI https://doi.org/10.1093/ije/dyz174

 

Effects of autozygosity on a broad range of human phenotypes.

Nature Communications 2019 Oct 31;10(1):4957. DOI https://doi.org/10.1038/s41467-019-12283-6

 

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

Nature Communications 2018 Feb 19;9(1):711. DOI https://doi.org/10.1038/s41467-018-03109-y

 

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.

Nature Communications 2017 Aug 21;8(1):303. DOI https://doi.org/10.1038/s41467-017-00323-y

 

Health and population effects of rare gene knockouts in adult humans with related parents.

Science 2016 Apr 22;352(6284):474-7. DOI https://doi.org/10.1126/science.aac8624