Skip to Main Content

Author Details

Tobias Marschall
Center for Digital Medicine, Heinrich Heine University Dusseldorf
2009
64
27
PMIDPaper TitleJournal TitlePublished Year
37165083Pangenome graph construction from genome alignments with Minigraph-Cactus.Nat Biotechnol2024
36335496Read-Based Phasing and Analysis of Phased Variants with WhatsHap.Methods Mol Biol2023
38057863Correction: Constructing founder sets under allelic and non-allelic homologous recombination.Algorithms Mol Biol2023
37612510Assembly of 43 human Y chromosomes reveals extensive complexity and variation.Nature2023
37775806Constructing founder sets under allelic and non-allelic homologous recombination.Algorithms Mol Biol2023
37928341Allele detection using <i>k</i>-mer-based sequencing error profiles.Bioinform Adv2023
37122002Inversion polymorphism in a complete human genome assembly.Genome Biol2023
37469802Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood <i>ETV6::RUNX1+</i> and High Hyperdiploid Acute Lymphoblastic Leukemia.Hemasphere2023
37205567Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall.bioRxiv2023
37164484Gaps and complex structurally variant loci in phased genome assemblies.Genome Res2023
36424487Functional analysis of structural variants in single cells using Strand-seq.Nat Biotechnol2023
34702947K<sub>2P</sub>18.1 translates T cell receptor signals into thymic regulatory T cell development.Cell Res2022
35444317The Human Pangenome Project: a global resource to map genomic diversity.Nature2022
35410384Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.Nat Genet2022
35799353BubbleGun: enumerating bubbles and superbubbles in genome graphs.Bioinformatics2022
35692633Genetic polyploid phasing from low-depth progeny samples.iScience2022
35525246Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.Cell2022
36109679SVision: a deep learning approach to resolve complex structural variants.Nat Methods2022
33475133MBG: Minimizer-based sparse de Bruijn Graph construction.Bioinformatics2021
33792647ASHLEYS: automated quality control for single-cell Strand-seq data.Bioinformatics2021
33789087Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.Am J Hum Genet2021
33632895Haplotype-resolved diverse human genomes and integrated analysis of structural variation.Science2021
33288906Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.Nat Biotechnol2021
33288905Chromosome-scale, haplotype-resolved assembly of human genomes.Nat Biotechnol2021
32160036Chromatyping: Reconstructing Nucleosome Profiles from NOMe Sequencing Data.J Comput Biol2020
32033589Eleven grand challenges in single-cell data science.Genome Biol2020
31873213Single-cell analysis of structural variations and complex rearrangements with tri-channel processing.Nat Biotechnol2020
32972461GraphAligner: rapid and versatile sequence-to-graph alignment.Genome Biol2020
32686750Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes.Nat Biotechnol2020
32699374Author Correction: A robust benchmark for detection of germline large deletions and insertions.Nat Biotechnol2020
32951599Haplotype threading: accurate polyploid phasing from long reads.Genome Biol2020
32541955A robust benchmark for detection of germline large deletions and insertions.Nat Biotechnol2020
32541924Recurrent inversion toggling and great ape genome evolution.Nat Genet2020
32453966Pangenome Graphs.Annu Rev Genomics Hum Genet2020
32345333Varlociraptor: enhancing sensitivity and controlling false discovery rate in somatic indel discovery.Genome Biol2020
30851095Bit-parallel sequence-to-graph alignment.Bioinformatics2019
31406327Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.Nat Biotechnol2019
31510650Fully-sensitive seed finding in sequence graphs using a hybrid index.Bioinformatics2019
31159868Haplotype-aware diplotyping from noisy long reads.Genome Biol2019
30978217SNP and indel frequencies at transcription start sites and at canonical and alternative translation initiation sites in the human genome.PLoS One2019
29949971Strand-seq enables reliable separation of long reads by chromosome via expectation maximization.Bioinformatics2018
29949989A graph-based approach to diploid genome assembly.Bioinformatics2018
29101320Dense and accurate whole-chromosome haplotyping of individual genomes.Nat Commun2017
28169394Genotyping inversions and tandem duplications.Bioinformatics2017
29109544Mapping and phasing of structural variation in patient genomes using nanopore sequencing.Nat Commun2017
27307622Read-based phasing of related individuals.Bioinformatics2016
28185544PWHATSHAP: efficient haplotyping for future generation sequencing.BMC Bioinformatics2016
27587679Detecting horizontal gene transfer by mapping sequencing reads across species boundaries.Bioinformatics2016
27708267A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.Nat Commun2016
25658651WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads.J Comput Biol2015
  • 1 - 50 of 64

Recommended Authors

Stanford University
Career Start Year 2013
Number of shared co-authors 0
University of Victoria
Career Start Year 2012
Number of shared co-authors 2
Boulder and BioFrontiers Institute, University of Colorado Boulder
Career Start Year 2011
Number of shared co-authors 11
Berlin Institute of Health
Career Start Year 2011
Number of shared co-authors 0
Novartis Pharma AG
Career Start Year 2010
Number of shared co-authors 6
ETH Zurich
Career Start Year 2010
Number of shared co-authors 6
National Institute for Public Health and the Environment
Career Start Year 2009
Number of shared co-authors 6
Ontario Institute for Cancer Research
Career Start Year 2009
Number of shared co-authors 20
Center for Public Health Genomics, University of Virginia
Career Start Year 2008
Number of shared co-authors 16
Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin
Career Start Year 2008
Number of shared co-authors 4
Regeneron Pharmaceuticals, Inc.
Career Start Year 2007
Number of shared co-authors 11
University of Utah
Career Start Year 2007
Number of shared co-authors 10
Technical University of Denmark
Career Start Year 2006
Number of shared co-authors 4
Variant Bio Inc.
Career Start Year 2006
Number of shared co-authors 6
European Bioinformatics Institute
Career Start Year 2005
Number of shared co-authors 14
Carnegie Mellon University
Career Start Year 2005
Number of shared co-authors 2
University of California San Diego
Career Start Year 2004
Number of shared co-authors 2
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 6
The Peter Doherty Institute for Infection and Immunity, The University of Melbourne
Career Start Year 2003
Number of shared co-authors 6
Center for Molecular Medicine, University Medical Center Utrecht
Career Start Year 2001
Number of shared co-authors 7
Artificial Intelligence Research Center, University of Tokyo
Career Start Year 2001
Number of shared co-authors 1
National Cancer Institute, National Institutes of Health
Career Start Year 2001
Number of shared co-authors 12
University of Toronto
Career Start Year 2000
Number of shared co-authors 15
Illumina Inc.
Career Start Year 2000
Number of shared co-authors 9
Columbia University
Career Start Year 1999
Number of shared co-authors 6
University of British Columbia
Career Start Year 1999
Number of shared co-authors 6
Broad Institute of MIT and Harvard
Career Start Year 1999
Number of shared co-authors 10
University of California San Diego
Career Start Year 1998
Number of shared co-authors 11
University of California Riverside
Career Start Year 1996
Number of shared co-authors 3
Center for Computational Biology, Johns Hopkins University
Career Start Year 1992
Number of shared co-authors 21

Collaborators

University of Washington
Co-authored papers 15
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 15
UC Santa Cruz Genomics Institute, University of California
Co-authored papers 8
University of Southern California
Co-authored papers 6
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 5
University of Copenhagen
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 5
National Institute of Standards and Technology
Co-authored papers 5
University of Michigan Medical School ann arbor
Co-authored papers 4
Stanford School of Medicine
Co-authored papers 4
Institute of Oceanology, Chinese Academy of Sciences
Co-authored papers 4
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
University of Connecticut Health Center
Co-authored papers 4
University of Heidelberg
Co-authored papers 4
UC Santa Cruz Genomics Institute, University of California
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Chengdu First People's Hospital
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3
University of Colorado Denver
Co-authored papers 3
Google LLC
Co-authored papers 3
Johns Hopkins University
Co-authored papers 3
Institute for Computational Biomedicine
Co-authored papers 3
National Institute of Standards and Technology
Co-authored papers 3
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
University of Texas MD Anderson Cancer Center
Co-authored papers 2
Institute for Computational Biomedicine, Weill Cornell Medicine of Cornell University
Co-authored papers 2
Charles-Bruneau Cancer Center, Centre Hospitalier Universitaire (CHU) Sainte-Justine
Co-authored papers 2
Wellcome Sanger Institute
Co-authored papers 2