Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Phylogenetic Studies, Genomics and Rare Diseases, Virus-based gene therapy research, and Cancer Genomics and Diagnostics.
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
Author Correction: A structural variation reference for medical and population genetics
The mutational constraint spectrum quantified from variation in 141,456 humans
Progressive Cactus is a multiple-genome aligner for the thousand-genome era
Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Evaluating drug targets through human loss-of-function genetic variation
Figshare 2020cited by 163position: middle
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Solenodon genome reveals convergent evolution of venom in eulipotyphlan mammals
A comprehensive genomic history of extinct and living elephants
Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci
The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons
FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome
Corrigendum: The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons
HAL (Le Centre pour la Communication Scientifique Directe) 2016cited by 1position: middle
Convergent evolution of the genomes of marine mammals
The genomic substrate for adaptive radiation in African cichlid fish
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators
Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication
Sequencing the Mouse Y Chromosome Reveals Convergent Gene Acquisition and Amplification on Both Sex Chromosomes
An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts
The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease
The African coelacanth genome provides insights into tetrapod evolution