SVIM: structural variant identification using mapped long reads D Heller, M Vingron Bioinformatics 35 (17), 2907-2915, 2019 | 110 | 2019 |
Genotyping structural variants in pangenome graphs using the vg toolkit G Hickey, D Heller, J Monlong, JA Sibbesen, J Sirén, J Eizenga, ... Genome biology 21 (1), 1-17, 2020 | 97 | 2020 |
Chromosome-scale, haplotype-resolved assembly of human genomes S Garg, A Fungtammasan, A Carroll, M Chou, A Schmitt, X Zhou, S Mac, ... Nature Biotechnology, 1-4, 2020 | 84* | 2020 |
ssHMM: extracting intuitive sequence-structure motifs from high-throughput RNA-binding protein data D Heller, R Krestel, U Ohler, M Vingron, A Marsico Nucleic Acids Research 45 (19), 11004–11018, 2017 | 39 | 2017 |
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality F M. Real, SA Haas, P Franchini, P Xiong, O Simakov, H Kuhl, R Schöpflin, ... Science 370 (6513), 208-214, 2020 | 20 | 2020 |
SVIM-asm: Structural variant detection from haploid and diploid genome assemblies D Heller, M Vingron bioRxiv, 2020 | 19 | 2020 |
Ranbow: A fast and accurate method for polyploid haplotype reconstruction MH Moeinzadeh, J Yang, E Muzychenko, G Gallone, D Heller, K Reinert, ... PLoS computational biology 16 (5), e1007843, 2020 | 14 | 2020 |
SDip: A novel graph-based approach to haplotype-aware assembly based structural variant calling in targeted segmental duplications sequencing D Heller, M Vingron, G Church, H Li, S Garg bioRxiv, 2020 | 9 | 2020 |
Structural variant calling using third-generation sequencing data D Heller | 1 | 2021 |
Integration of Hi-C and long-read sequencing reveals the structure of highly rearranged chromosomes in patients with germline-chromothripsis R Schoepflin, US Melo, H Moeinzadeh, D Heller, V Heinrich, J Herztberg, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 82-82, 2022 | | 2022 |
Germline chromothripsis: Integration of Hi-C and long-read sequencing reveals the structure of highly rear-ranged chromosomes R Schopflin, US Melo, D Heller, J Jungnitsch, M Klever, M Holtgrewe, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 566-567, 2020 | | 2020 |
Using multiple sequencing platforms to identify and characterise disease-causing genome alterations G Gallone, R Schoepflin, H Moeinzadeh, D Heller, M Spielmann, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1718-1718, 2019 | | 2019 |