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David Heller
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SVIM: structural variant identification using mapped long reads
D Heller, M Vingron
Bioinformatics 35 (17), 2907-2915, 2019
1102019
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
972020
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
392017
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
202020
SVIM-asm: Structural variant detection from haploid and diploid genome assemblies
D Heller, M Vingron
bioRxiv, 2020
192020
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
142020
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
92020
Structural variant calling using third-generation sequencing data
D Heller
12021
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
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