Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, and Genetic Associations and Epidemiology.
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
A genomic mutational constraint map using variation in 76,156 human genomes
Inferring compound heterozygosity from large-scale exome sequencing data
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
The mutational constraint spectrum quantified from variation in 141,456 humans
A structural variation reference for medical and population genetics
Transcript expression-aware annotation improves rare variant interpretation
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
The effect of LRRK2 loss-of-function variants in humans
Genetic Diversity and Protective Efficacy of the RTS,S/AS01 Malaria Vaccine