Area of research
Molecular Biology · Genetics
Research interest
Research interests include Biology, Genetics, Genome, Computational biology, Imputation (statistics), and Computer science.
The Federated European Genome–Phenome Archive as a global network for sharing human genomics data
Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres
IFI207, a young and fast‐evolving protein, controls retroviral replication via the STING pathway
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
Twelve years of SAMtools and BCFtools
HTSlib: C library for reading/writing high-throughput sequencing data
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Transcriptional activity and strain-specific history of mouse pseudogenes
Leveraging European infrastructures to access 1 million human genomes by 2022
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci
Repeat associated mechanisms of genome evolution and function revealed by the <i>Mus caroli</i> and <i>Mus pahari</i> genomes
The UK10K project identifies rare variants in health and disease
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
The BRAF Pseudogene Functions as a Competitive Endogenous RNA and Induces Lymphoma In Vivo
The genomic and phenotypic diversity of Schizosaccharomyces pombe
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
The mutational landscapes of genetic and chemical models of Kras-driven lung cancer
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma
The genomic landscape shaped by selection on transposable elements across 18 mouse strains