Author
Wellcome Sanger InstituteORCID 0000-0003-0338-3070Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Xiao Jiang, Fengyuan Hu, Xueqing Zoe Zou…·Katherine R. Smith
The paper analyzes CYP2D6 genetic variation across 479,144 UK Biobank genomes, identifying structural and rare variants, and their clinical associations across ancestries.
Charles A. Steward, Jolien Roovers, Marie‐Marthe Suner…·Adam Frankish
The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.
Cristina Sisu, Paul Muir, Adam Frankish…·Mark Gerstein
The paper annotates pseudogenes in the mouse genome and strains, finding similar overall characteristics to humans but distinct age distributions and transcriptional patterns.
Jingtao Lilue, Anthony Doran, Ian T. Fiddes…·Thomas Keane
The paper presents full-length de novo genome assemblies for 16 inbred mouse strains, identifying strain-specific haplotypes and novel functional loci, including a large unannotated gene with potential developmental roles.
Julien Lagarde, Barbara Uszczyńska-Ratajczak, Silvia Carbonell…·Rory Johnson
The paper introduces RNA Capture Long Seq (CLS) to annotate full-length lncRNAs with high throughput and accuracy, doubling annotated complexity compared to short-read methods.