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 Cancer Genomics and Diagnostics.
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
Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space
LungMAP Portal Ecosystem: Systems-level Exploration of the Lung
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Author Correction: A structural variation reference for medical and population genetics
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
Epigenetic Silencing of SPINT2 Promotes Cancer Cell Motility via HGF-MET Pathway Activation in Melanoma