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23 Dec 2025 BMRC Bioinformatics Institute GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders (Pending publish) Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S.L. Graefe, Viktor Bily, Andrés Caballero-Oteyza, Pilar Cacheiro, Leonardo Chimirri, Jessica X. Chong, Evan Connelly, Bert B.A. de Vries, Alexander J.M. Dingemans, Michael H. Duyzend, Tomas Freiberger, Petra Gehle, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Markus S. Ladewig, Michael I. Love, Allison J. Marcello, Alexander Mordhorst, Monica C. Munoz-Torres, Justin Reese, Catharina Schuetz, Damian Smedley, Timmy Strauss, Ondrej Vladyka, David Zocche, Sylvia Thun, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson The American Journal of Human Genetics
13 Mar 2025 BMRC Genome Institute of Singapore A systematic benchmark of Nanopore long-read RNA sequencing for transcript-level analysis in human cell lines Ying Chen, Nadia M. Davidson, Yuk Kei Wan, Fei Yao, Yan Su, Hasindu Gamaarachchi, Andre Sim, Harshil Patel, Hwee Meng Low, Christopher Hendra, Laura Wratten, Christopher Hakkaart, Chelsea Sawyer, Viktoriia Iakovleva, Puay Leng Lee, Lixia Xin, Hui En Vanessa Ng, Jia Min Loo, Xuewen Ong, Hui Qi Amanda Ng, Jiaxu Wang, Wei Qian Casslynn Koh, Suk Yeah Polly Poon, Dominik Stanojevic, Hoang-Dai Tran, Kok Hao Edwin Lim, Shen Yon Toh, Philip Andrew Ewels, Huck-Hui Ng, N. Gopalakrishna Iyer, Alexandre Thiery, Wee Joo Chng, Leilei Chen, Ramanuj DasGupta, Mile Sikic, Yun-Shen Chan, Boon Ooi Patrick Tan, Yue Wan, Wai Leong Tam, Qiang Yu, Chiea Chuan Khor, Torsten Wüstefeld, Alexander Lezhava, Ploy N. Pratanwanich, Michael I. Love, Wee Siong Sho Goh, Sarah B. Ng, Alicia Oshlack, , N. Gopalakrishna Iyer, Qiang Yu, Jonathan Göke Nature Methods
12 Jun 2023 BMRC Genome Institute of Singapore Context-aware transcript quantification from long-read RNA-seq data with Bambu Ying Chen, Andre Sim, Yuk Kei Wan, Keith Yeo, Joseph Jing Xian Lee, Min Hao Ling, Michael I. Love, Jonathan Göke Nature Methods