Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, 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
The commitment of the human cell atlas to humanity
A genomic mutational constraint map using variation in 76,156 human genomes
Inferring compound heterozygosity from large-scale exome sequencing data
The Data Use Ontology to streamline responsible access to human biomedical datasets
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
Analysis of protein-coding genetic variation in 60,706 humans
Analysis of protein-coding genetic variation in 60,706 humans