Joep de Ligt

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Alexander Schönhuth, Victor Guryev, Tobias Marschall, 2016, Nature communications.

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Kai Ye, Jayne Y Hehir-Kwa, J. Hehir-Kwa, 2014, Genome Biology.

Toward effective software solutions for big biology

Edwin Cuppen, Pjotr Prins, Philip E Bourne, 2015, Nature Biotechnology.

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Edwin Cuppen, Tobias Marschall, Jeroen de Ridder, 2017, Nature Communications.

Scalable Workflows and Reproducible Data Analysis for Genomics

Pjotr Prins, Paolo Di Tommaso, George Githinji, 2019, Methods in molecular biology.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Edwin Cuppen, Marcel Nelen, Wilfred F J van IJcken, 2015, European Journal of Human Genetics.

A system-wide approach to monitor responses to synergistic BRAF and EGFR inhibition in colorectal cancer cells

Edwin Cuppen, Anna Ressa, Anirudh Prahallad, 2017, bioRxiv.

Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver

Hans Clevers, Nobuo Sasaki, Edwin Cuppen, 2015, Cell.

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.