Author
European Bioinformatics InstituteORCID 0000-0001-8568-4306Unclaimed ORCID profile · follow to get notified of new preprints
7 papers
Recent·Most cited
Glenn Hickey, Jean Monlong, Jana Ebler…·Valérie Schneider
The paper introduces Minigraph-Cactus, a pangenome pipeline that constructs pangenome graphs directly from whole-genome alignments, demonstrating improved performance in mapping and variant calling across human and Drosophila data.
Wen‐Wei Liao, Mobin Asri, Jana Ebler…·Francesca Floriana Tricomi
The paper presents a draft human pangenome reference that improves variant discovery and structural variant detection compared to existing references.
Andrea Guarracino, Silvia Buonaiuto, Leonardo Gomes de Lima…·Ashley D. Sanders
The paper shows recombination between heterologous human acrocentric chromosomes using pangenome data, revealing pseudo-homologous regions linked to Robertsonian translocations.
Amanda Warr, Nabeel Ahmed Affara, Bronwen L. Aken…·Alan L. Archibald
The paper presents improved pig reference genomes using long-read sequencing, enhancing continuity and accuracy for pig genetics and genomics research.
Neil J. Gemmell, Kim Rutherford, Stefan Prost…·Ngatiwai Trust Board
The paper presents the tuatara genome, highlighting its evolutionary significance and unique features compared to other vertebrates.
Wai Yee Low, Rick G. Tearle, Ruijie Liu…·John Lewis Williams
The paper presents haplotype-resolved cattle genomes to identify structural variants and adaptation traits, finding expanded immune-related gene families and a fatty acid desaturase copy under positive selection in indicine cattle.
Richard Joseph White, John E Collins, Ian M. Sealy…·Elisabeth M. Busch‐Nentwich
RNA-seq and 3′ end counting over 18 zebrafish stages (1-cell to day 5) profile 23,642 genes; over 100 chromosome 4 zinc finger genes peak at zygotic genome activation.