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Author Details

Jan O Korbel
European Bioinformatics Institute (EMBL-EBI)
2001
179
73
Antoine Forget (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
32051562Publisher Correction: Butler enables rapid cloud-based analysis of thousands of human genomes.Nat Biotechnol2023
35522148Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B-cell lymphomas.Haematologica2023
36424487Functional analysis of structural variants in single cells using Strand-seq.Nat Biotechnol2023
37873367Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.bioRxiv2023
37612510Assembly of 43 human Y chromosomes reveals extensive complexity and variation.Nature2023
36944844Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes.Nat Biotechnol2023
36697831Author Correction: Genomic basis for RNA alterations in cancer.Nature2023
37122002Inversion polymorphism in a complete human genome assembly.Genome Biol2023
37164484Gaps and complex structurally variant loci in phased genome assemblies.Genome Res2023
36849559Author Correction: The NSL complex maintains nuclear architecture stability via lamin A/C acetylation.Nat Cell Biol2023
37503087MosaiCatcher v2: a single-cell structural variations detection and analysis reference framework based on Strand-seq.bioRxiv2023
32051562Publisher Correction: Butler enables rapid cloud-based analysis of thousands of human genomes.Nat Biotechnol2023
37612510Assembly of 43 human Y chromosomes reveals extensive complexity and variation.Nature2023
37503087MosaiCatcher v2: a single-cell structural variations detection and analysis reference framework based on Strand-seq.bioRxiv2023
37873367Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.bioRxiv2023
35522148Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B-cell lymphomas.Haematologica2023
37122002Inversion polymorphism in a complete human genome assembly.Genome Biol2023
36944844Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes.Nat Biotechnol2023
37164484Gaps and complex structurally variant loci in phased genome assemblies.Genome Res2023
36697831Author Correction: Genomic basis for RNA alterations in cancer.Nature2023
36849559Author Correction: The NSL complex maintains nuclear architecture stability via lamin A/C acetylation.Nat Cell Biol2023
36424487Functional analysis of structural variants in single cells using Strand-seq.Nat Biotechnol2023
35290762Familial long-read sequencing increases yield of de novo mutations.Am J Hum Genet2022
35659150Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study.Eur Urol2022
36180231A high-resolution map of small-scale inversions in the gibbon genome.Genome Res2022
35655332Structural Variation in Cancer: Role, Prevalence, and Mechanisms.Annu Rev Genomics Hum Genet2022
35525246Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.Cell2022
35585141Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.Leukemia2022
35410384Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.Nat Genet2022
35290762Familial long-read sequencing increases yield of de novo mutations.Am J Hum Genet2022
35585141Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.Leukemia2022
35410384Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.Nat Genet2022
35525246Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.Cell2022
35659150Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study.Eur Urol2022
35655332Structural Variation in Cancer: Role, Prevalence, and Mechanisms.Annu Rev Genomics Hum Genet2022
36180231A high-resolution map of small-scale inversions in the gibbon genome.Genome Res2022
33288906Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.Nat Biotechnol2021
33632895Haplotype-resolved diverse human genomes and integrated analysis of structural variation.Science2021
33792647ASHLEYS: automated quality control for single-cell Strand-seq data.Bioinformatics2021
33630765Versatile workflow for cell type-resolved transcriptional and epigenetic profiles from cryopreserved human lung.JCI Insight2021
33953289Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas.Leukemia2021
33789087Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.Am J Hum Genet2021
33288906Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.Nat Biotechnol2021
34682091The Statistical Foundations of Entropy.Entropy (Basel)2021
34515408The Porto European Cancer Research Summit 2021.Mol Oncol2021
34782764Chromothripsis followed by circular recombination drives oncogene amplification in human cancer.Nat Genet2021
34552071Systems approaches identify the consequences of monosomy in somatic human cells.Nat Commun2021
35088059The X chromosome from telomere to telomere: key achievements and future opportunities.Fac Rev2021
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
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St. Anna Children's Cancer Research Institute (CCRI)
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University of Heidelberg
Co-authored papers 36
Mark Gerstein
Yale University
Co-authored papers 27
Sebastian M Waszak
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University of Copenhagen
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Stanford University
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Berlin Institute of Health (BIH) and Charite
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University of Washington
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Tobias Marschall
Center for Digital Medicine, Heinrich Heine University Dusseldorf
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Marc Zapatka
Co-authored papers 14
Olaf Witt
Hopp Children's Cancer Center Heidelberg (KiTZ)
Co-authored papers 14
Chris Lawerenz
German Cancer Research Center (DKFZ)
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Thorsten Schlomm
Charite - University Hospital Berlin
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Guido Sauter
Institute of Pathology, University Medical Center Hamburg-Eppendorf
Co-authored papers 13
Benjamin Raeder
Co-authored papers 12
Alexander E Urban
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Till Milde
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Nada Jabado
McGill University Health Centre (MUHC), Montreal Children's Hospital (MCH)
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Release 1.2