Jan O. Korbel
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German scientist
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Jan O. Korbelchemistry Degrees
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Why Is Jan O. Korbel Influential?
(Suggest an Edit or Addition)According to Wikipedia, Jan O. Korbel is a German scientist working in the fields of Human Genetics, Genomics and Computational Biology. He is a tenured principal investigator and Head of Data Science at the European Molecular Biology Laboratory Heidelberg, Germany, senior scientist in the Genome Biology Unit, is leading a bridging research division at the German Cancer Research Center , and is an honorary professor at Heidelberg University. A particular focus of the Korbel group is on investigating a particular form of mutation, genomic structural variation, which includes deletions, inversions and more complex chromosomal rearrangements such as chromothripsis events that can occur in healthy individuals and in context of disease. His group's principal research objective is to understand genomic structural variations as a basis of phenotypic variation and cancer development.
Jan O. Korbel's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A global reference for human genetic variation (2015) (11857)
- An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
- Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007) (5196)
- Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma (2012) (2074)
- International network of cancer genome projects (2010) (1839)
- An integrated map of structural variation in 2,504 human genomes (2015) (1800)
- DELLY: structural variant discovery by integrated paired-end and split-read analysis (2012) (1493)
- Comprehensive genomic profiles of small cell lung cancer (2015) (1397)
- Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome (2007) (1204)
- Pan-cancer analysis of whole genomes (2017) (1073)
- Mapping copy number variation by population scale genome sequencing (2010) (1057)
- Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment (2020) (894)
- The landscape of genomic alterations across childhood cancers (2018) (880)
- Dissecting the genomic complexity underlying medulloblastoma (2012) (777)
- Subgroup-specific structural variation across 1,000 medulloblastoma genomes (2012) (760)
- Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations (2012) (755)
- What is a gene, post-ENCODE? History and updated definition. (2007) (699)
- The whole-genome landscape of medulloblastoma subtypes (2017) (658)
- Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma (2013) (637)
- Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. (2014) (601)
- Variation in Transcription Factor Binding Among Humans (2010) (595)
- Toward understanding and exploiting tumor heterogeneity (2015) (557)
- Eleven grand challenges in single-cell data science (2020) (553)
- Multi-platform discovery of haplotype-resolved structural variation in human genomes (2017) (550)
- Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines (2014) (509)
- Epigenomic alterations define lethal CIMP-positive ependymomas of infancy (2014) (507)
- Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma (2014) (496)
- Phenotypic impact of genomic structural variation: insights from and for human disease (2013) (462)
- Assembly and diploid architecture of an individual human genome via single-molecule technologies (2015) (433)
- Criteria for Inference of Chromothripsis in Cancer Genomes (2013) (426)
- Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing (2012) (404)
- The Genomic and Transcriptomic Landscape of a HeLa Cell Line (2013) (394)
- Patterns of somatic structural variation in human cancer genomes (2020) (377)
- Patterns of somatic structural variation in human cancer genomes (2020) (377)
- Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes. (2016) (374)
- The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies (2009) (355)
- Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer. (2013) (308)
- Active medulloblastoma enhancers reveal subgroup-specific cellular origins (2016) (296)
- A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans (2011) (293)
- PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data (2009) (286)
- Prediction of effective genome size in metagenomic samples (2007) (277)
- Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking (2016) (275)
- Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency (2015) (241)
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation (2021) (239)
- Intratumor DNA methylation heterogeneity reflects clonal evolution in aggressive prostate cancer. (2014) (232)
- Genomic basis for RNA alterations in cancer (2020) (221)
- Analyses of non-coding somatic drivers in 2,658 cancer whole genomes (2020) (220)
- Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort (2018) (212)
- Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression (2019) (210)
- Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19 (2020) (205)
- Structured RNAs in the ENCODE selected regions of the human genome. (2007) (201)
- Comprehensive molecular characterization of mitochondrial genomes in human cancers (2017) (197)
- Analysis of genomic context: prediction of functional associations from conserved bidirectionally transcribed gene pairs (2004) (193)
- Quantifying environmental adaptation of metabolic pathways in metagenomics (2009) (191)
- SHOT: a web server for the construction of genome phylogenies. (2002) (180)
- Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (2020) (180)
- Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (2020) (180)
- Modeling Financial Time Series (2013) (176)
- Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library (2010) (176)
- Shadow Enhancers Are Pervasive Features of Developmental Regulatory Networks (2016) (173)
- Systematic Association of Genes to Phenotypes by Genome and Literature Mining (2005) (172)
- Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options (2015) (171)
- Recurrent MET fusion genes represent a drug target in pediatric glioblastoma (2016) (160)
- High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. (2006) (155)
- Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history. (2008) (150)
- Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories. (2018) (149)
- Computational pan-genomics: status, promises and challenges (2016) (145)
- Genomic deletion of MAP3K7 at 6q12-22 is associated with early PSA recurrence in prostate cancer and absence of TMPRSS2:ERG fusions (2013) (140)
- Positive selection at the protein network periphery: Evaluation in terms of structural constraints and cellular context (2007) (140)
- Systematic discovery of analogous enzymes in thiamin biosynthesis (2003) (137)
- BAZ2A (TIP5) is involved in epigenetic alterations in prostate cancer and its overexpression predicts disease recurrence (2014) (136)
- Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (2020) (128)
- A structured open dataset of government interventions in response to COVID-19 (2020) (126)
- Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. (2013) (122)
- Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial. (2018) (120)
- Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients (2020) (119)
- Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies. (2008) (116)
- The current excitement about copy-number variation: how it relates to gene duplications and protein families. (2008) (115)
- A cell-based model system links chromothripsis with hyperploidy (2015) (107)
- Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions. (2011) (107)
- High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution (2008) (106)
- The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse (2014) (102)
- Clinical significance of different types of p53 gene alteration in surgically treated prostate cancer (2014) (102)
- Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome (2007) (98)
- The Baker's Yeast Diploid Genome Is Remarkably Stable in Vegetative Growth and Meiosis (2010) (97)
- Integrative pathway enrichment analysis of multivariate omics data (2018) (96)
- Data analysis: Create a cloud commons (2015) (94)
- Distinct genomic aberrations associated with ERG rearranged prostate cancer (2009) (93)
- Mitochondrial mutations drive prostate cancer aggression (2017) (92)
- Targeted Perturb-seq enables genome-scale genetic screens in single cells (2020) (91)
- MYC/MIZ1-dependent gene repression inversely coordinates the circadian clock with cell cycle and proliferation (2016) (90)
- High-resolution genomic profiling of chronic lymphocytic leukemia reveals new recurrent genomic alterations. (2012) (89)
- Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19 (2021) (86)
- Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads (2020) (84)
- Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads (2014) (82)
- Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma (2019) (81)
- Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis (2020) (80)
- Primate genome architecture influences structural variation mechanisms and functional consequences (2013) (79)
- Global Identification and Characterization of Transcriptionally Active Regions in the Rice Genome (2007) (78)
- Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia (2017) (77)
- Effects of the COVID-19 pandemic on life scientists (2020) (76)
- Dense and accurate whole-chromosome haplotyping of individual genomes (2017) (70)
- The Molecular Landscape of ETMR at Diagnosis and Relapse (2019) (70)
- Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing (2013) (70)
- Germline Elongator mutations in Sonic Hedgehog medulloblastoma (2020) (69)
- Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity (2010) (69)
- Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation (2015) (64)
- TMPRSS2-ERG fusions are strongly linked to young patient age in low-grade prostate cancer. (2014) (60)
- Leveraging European infrastructures to access 1 million human genomes by 2022 (2019) (60)
- Similar gene expression profiles do not imply similar tissue functions. (2006) (59)
- Maximum Entropy Principle in Statistical Inference: Case for Non-Shannonian Entropies. (2018) (58)
- Option Pricing Beyond Black-Scholes Based on Double-Fractional Diffusion (2015) (56)
- Combining frequency and positional information to predict transcription factor binding sites (2001) (54)
- Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms (2015) (54)
- Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation. (2019) (53)
- Genetic code expansion for multiprotein complex engineering (2016) (53)
- Alfred: interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing (2018) (52)
- Negative Selection and Chromosome Instability Induced by Mad2 Overexpression Delay Breast Cancer but Facilitate Oncogene-Independent Outgrowth (2016) (52)
- Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility (2020) (51)
- The whole-genome panorama of cancer drivers (2017) (50)
- Genome assembly and haplotyping with Hi-C (2013) (49)
- Patterns of structural variation in human cancer (2017) (48)
- Modeling of financial processes with a space-time fractional diffusion equation of varying order (2016) (48)
- The NSL complex maintains nuclear architecture stability via lamin A/C acetylation (2019) (47)
- MSB: a mean-shift-based approach for the analysis of structural variation in the genome. (2008) (43)
- Pan-cancer analysis distinguishes transcriptional changes of aneuploidy from proliferation. (2017) (42)
- A supervised hidden markov model framework for efficiently segmenting tiling array data in transcriptional and chIP-chip experiments: systematically incorporating validated biological knowledge (2006) (41)
- Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis (2017) (41)
- Sex differences in oncogenic mutational processes (2019) (41)
- Alterations of microRNA and microRNA-regulated messenger RNA expression in germinal center B-cell lymphomas determined by integrative sequencing analysis (2016) (39)
- Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes (2022) (38)
- Genomic structural variations lead to dysregulation of important coding and non‐coding RNA species in dilated cardiomyopathy (2017) (38)
- Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies. (2021) (37)
- Semi-automated assembly of high-quality diploid human reference genomes (2022) (37)
- Acquisition of chromosome instability is a mechanism to evade oncogene addiction (2020) (37)
- Challenges in studying genomic structural variant formation mechanisms: The short‐read dilemma and beyond (2011) (37)
- Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma (2019) (36)
- Chromatin modifiers Mdm2 and RNF2 prevent RNA:DNA hybrids that impair DNA replication (2018) (36)
- Single-cell analysis of structural variations and complex rearrangements with tri-channel processing (2019) (35)
- High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations (2020) (34)
- Germline determinants of the somatic mutation landscape in 2,642 cancer genomes (2017) (33)
- Genomics: data sharing needs an international code of conduct (2020) (32)
- Chromothripsis followed by circular recombination drives oncogene amplification in human cancer (2021) (32)
- AlphaDesign: A de novo protein design framework based on AlphaFold (2021) (31)
- Extracting information from cDNA arrays. (2001) (31)
- Combined burden and functional impact tests for cancer driver discovery using DriverPower (2020) (31)
- Recurrent inversion toggling and great ape genome evolution (2020) (30)
- PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia (2018) (30)
- On q-non-extensive statistics with non-Tsallisian entropy (2015) (30)
- The DART classification of unannotated transcription within the ENCODE regions: associating transcription with known and novel loci. (2007) (29)
- Towards a European health research and innovation cloud (HRIC) (2020) (29)
- Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3) (2016) (29)
- Heterogeneity of ERG expression in prostate cancer: a large section mapping study of entire prostatectomy specimens from 125 patients (2016) (28)
- Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally (2017) (27)
- Genomic basis for RNA alterations revealed by whole-genome analyses of 27 cancer types (2017) (27)
- A fully phased accurate assembly of an individual human genome (2019) (27)
- Classification of complex systems by their sample-space scaling exponents (2018) (26)
- Large-Scale Uniform Analysis of Cancer Whole Genomes in Multiple Computing Environments (2017) (26)
- Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders (2022) (25)
- A scalable CRISPR/Cas9-based fluorescent reporter assay to study DNA double-strand break repair choice (2020) (25)
- No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients (2016) (25)
- Immortalization capacity of HPV types is inversely related to chromosomal instability (2016) (23)
- Multifractal diffusion entropy analysis: Optimal bin width of probability histograms (2014) (23)
- Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas (2021) (22)
- Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (2020) (22)
- Deletion lengthening at chromosomes 6q and 16q targets multiple tumor suppressor genes and is associated with an increasingly poor prognosis in prostate cancer (2017) (22)
- Author Correction: The landscape of genomic alterations across childhood cancers (2018) (21)
- Strand-seq enables reliable separation of long reads by chromosome via expectation maximization (2018) (20)
- Multi-platform discovery of haplotype-resolved structural variation in human genomes (2019) (20)
- Use of pathway analysis and genome context methods for functional genomics of Mycoplasma pneumoniae nucleotide metabolism. (2007) (19)
- Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours (2017) (19)
- Pangenome-based genome inference (2020) (19)
- Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. (2013) (17)
- Genomic data sharing in Europe is stumbling—Could a code of conduct prevent its fall? (2020) (17)
- Applications of the Fractional Diffusion Equation to Option Pricing and Risk Calculations (2019) (17)
- VISOR: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing (2019) (16)
- InTAD: chromosome conformation guided analysis of enhancer target genes (2019) (16)
- SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome (2014) (16)
- Genome-wide Screens Implicate Loss of Cullin Ring Ligase 3 in Persistent Proliferation and Genome Instability in TP53-Deficient Cells (2020) (16)
- Pan-cancer study of heterogeneous RNA aberrations (2017) (16)
- A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition (2015) (16)
- Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2 (2019) (15)
- MCM3AP and POMP Mutations Cause a DNA‐Repair and DNA‐Damage‐Signaling Defect in an Immunodeficient Child (2016) (15)
- Systems approaches identify the consequences of monosomy in somatic human cells (2021) (15)
- Series representation of the pricing formula for the European option driven by space-time fractional diffusion (2017) (15)
- Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma (2012) (15)
- Transitions between superstatistical regimes: Validity, breakdown and applications (2017) (15)
- Option Pricing Models Driven by the Space-Time Fractional Diffusion: Series Representation and Applications (2018) (14)
- Erratum: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms (2015) (13)
- Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
- Point Information Gain and Multidimensional Data Analysis (2015) (13)
- conditional expression of Myd 88 ( p . L 252 P ) leads to the development of diffuse large B cell lymphoma in mice (2017) (13)
- 12 Grand Challenges in Single-Cell Data Science (2019) (12)
- The effects of common structural variants on 3D chromatin structure (2020) (12)
- An overview of generalized entropic forms (2021) (12)
- When Shannon and Khinchin meet Shore and Johnson: Equivalence of information theory and statistical inference axiomatics. (2019) (12)
- Prevalence of chromosomal rearrangements involving non-ETS genes in prostate cancer. (2015) (11)
- Simple Formulas for Pricing and Hedging European Options in the Finite Moment Log-Stable Model (2019) (11)
- The Helmholtz Network for Bioinformatics: an integrative web portal for bioinformatics resources (2004) (11)
- On statistical properties of Jizba–Arimitsu hybrid entropy (2016) (11)
- Familial long-read sequencing increases yield of de novo mutations. (2022) (11)
- Transfer Entropy between Communities in Complex Financial Networks (2017) (11)
- Novel transcribed regions in the human genome. (2006) (10)
- Non-Gaussian Analytic Option Pricing: A Closed Formula for the Lévy-Stable Model (2016) (9)
- Applications of Hilfer-Prabhakar operator to option pricing financial model (2020) (9)
- Genomes of early onset prostate cancer (2017) (9)
- Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Clusters Based on Integrated Genomic Surveillance, Outbreak Analysis and Contact Tracing in an Urban Setting (2021) (9)
- Least informative distributions in maximum q-log-likelihood estimation (2017) (9)
- Information Geometric Duality of ϕ-Deformed Exponential Families (2018) (9)
- On the Uniqueness Theorem for Pseudo-Additive Entropies (2017) (9)
- TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data (2020) (9)
- ICGC PedBrain - dissecting the genomic complexity underlying medulloblastoma using whole-genome sequencing (2012) (8)
- Butler enables rapid cloud-based analysis of thousands of human genomes (2020) (8)
- Butler enables rapid cloud-based analysis of thousands of human genomes (2020) (8)
- Structural Variation in Cancer: Role, Prevalence, and Mechanisms. (2022) (8)
- Chromatin accessibility landscape of pediatric T‐lymphoblastic leukemia and human T‐cell precursors (2020) (8)
- A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL (2012) (8)
- Tsallis thermostatics as a statistical physics of random chains. (2016) (8)
- De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation (2020) (8)
- Pricing, Risk and Volatility in Subordinated Market Models (2020) (7)
- Rescaling the nonadditivity parameter in Tsallis thermostatistics (2017) (7)
- Next-generation sequencing-based detection of germline L1-mediated transductions (2016) (7)
- Efficient strategies to detect genome editing and integrity in CRISPR-Cas9 engineered ESCs (2019) (7)
- Information geometry of scaling expansions of non-exponentially growing configuration spaces (2020) (7)
- Point Divergence Gain and Multidimensional Data Sequences Analysis (2017) (7)
- Somatic structural variant formation is guided by and influences genome architecture (2021) (6)
- Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (2020) (6)
- Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly (2020) (6)
- Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (2020) (6)
- Publisher Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (2020) (6)
- Point information gain, point information gain entropy and point information gain entropy density as measures of semantic and syntactic information of multidimensional discrete phenomena (2015) (6)
- Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution (2020) (6)
- The aging prostate is never "normal": implications from the genomic characterization of multifocal prostate cancers. (2015) (5)
- Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders (2021) (5)
- Modeling Financial Time Series: Multifractal Cascades and Rényi Entropy (2014) (5)
- Using large-scale genome variation cohorts to decipher the molecular mechanism of cancer. (2016) (5)
- Calibration Invariance of the MaxEnt Distribution in the Maximum Entropy Principle (2021) (5)
- ASHLEYS: automated quality control for single-cell Strand-seq data (2021) (4)
- Enriched power of disease-concordant twin-case-only design in detecting interactions in genome-wide association studies (2019) (4)
- Stochastic thermodynamics and fluctuation theorems for non-linear systems (2020) (4)
- Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022 (2019) (4)
- The Porto European Cancer Research Summit 2021 (2021) (4)
- Remarks on “Comments on ‘On q-non-extensive statistics with non-Tsallisian entropy’ ” [Physica A 466 (2017) 160] (2017) (4)
- Thermodynamics of structure-forming systems (2020) (4)
- The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research (2020) (4)
- Methods and Techniques for Multifractal Spectrum Estimation in Financial Time Series (2013) (4)
- Transfer entropy between communities in complex networks (2017) (3)
- Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation (2022) (3)
- A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders. (2014) (3)
- The landscape of genomic alterations across childhood cancers (2018) (3)
- The landscape of genomic alterations across childhood cancers (2018) (3)
- Predicting collapse of adaptive networked systems without knowing the network (2020) (3)
- The landscape of genomic alterations across childhood cancers (2018) (3)
- Functional analysis of structural variants in single cells using Strand-seq. (2022) (3)
- Applications of Multifractal Diffusion Entropy Analysis to Daily and Intraday Financial Time Series (2015) (3)
- Comment on "Rényi entropy yields artificial biases not in the data and incorrect updating due to the finite-size data". (2019) (3)
- Versatile workflow for cell type–resolved transcriptional and epigenetic profiles from cryopreserved human lung (2021) (3)
- Faculty of Nuclear Sciences and Physical Engineering DIPLOMA THESIS Applications of Multifractals in Financial Markets (2012) (2)
- Enabling rapid cloud-based analysis of thousands of human genomes via Butler (2017) (2)
- Gaps and complex structurally variant loci in phased genome assemblies (2022) (2)
- Systematic Identification of Determinants for Single-Strand Annealing-Mediated Deletion Formation in Saccharomyces cerevisiae (2017) (2)
- Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution (2022) (2)
- Finding Transcription Factor Binding Sites in Coregulated Genes by Exhaustive Sequence Search (2000) (2)
- GENOMIC AND DRUG RESPONSE PROFILING OF FATAL TCF3-HLF-POSITIVE PEDIATRIC ACUTE LYMPHOBLASTIC LEUKEMIA IDENTIFIES RECURRENT MUTATION PATTERNS AND NOVEL THERAPEUTIC OPTIONS (2015) (1)
- Abstract 4872: ICGC PedBrain Tumor - Next-generation sequencing identifies novel subgroup-specific mutations and copy number aberrations in medulloblastoma (2012) (1)
- Regularization and analytic option pricing under $\alpha$-stable distribution of arbitrary asymmetry (2016) (1)
- Discovery of Analogous Enzymes in Thiamin Biosynthesis by Anticorrelation (2002) (1)
- PM-09REGULATION OF MEDULLOBLASTOMA FORMATION BY Gfi1 AND Gfi1B. (2014) (1)
- Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally (2017) (1)
- Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B-cell lymphomas (2022) (1)
- Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma (2019) (1)
- Energetic Link Between Spike Frequencies and Brain Fractal Dimensions (2016) (1)
- Applications of Multifractals in Financial Markets (2012) (1)
- Compositional Asymmetries and Predicted Origins of Replication of the Saccharomyces Cerevisiae Genome (2004) (1)
- Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes (2020) (1)
- Author Correction: Integrative pathway enrichment analysis of multivariate omics data (2020) (1)
- Author Correction: Pan-cancer analysis of whole genomes (2023) (1)
- Abstract SY10-02: Pan-cancer study of recurrent and heterogeneous RNA aberrations and association with whole-genome variants (2017) (1)
- TB-17A COMPREHENSIVE PAN-CANCER ANALYSIS OF CHILDHOOD MALIGNANCIES (2016) (1)
- LifeTime and improving European healthcare through cell-based interceptive medicine (2020) (1)
- The effects of common structural variants on 3D chromatin structure (2020) (1)
- Haplotype-aware single-cell multiomics uncovers functional effects of somatic structural variation (2021) (1)
- Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower (2020) (1)
- Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (2020) (1)
- Eleven grand challenges in single-cell data science (2020) (1)
- The X chromosome from telomere to telomere: key achievements and future opportunities. (2021) (1)
- Distributional Mellin calculus in $\mathbb{C}^n$, with applications to various option pricing models (2016) (1)
- Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping (2022) (1)
- Techniques for multifractal spectrum estimation in financial time series (2015) (1)
- Copy Number Variants and Segmental Duplications Show Different Formation Signatures (2007) (1)
- Variation in the Human Genome Paired-End Mapping Reveals Extensive Structural (2008) (1)
- Targeted Deep Sequencing of Genetic Alterations Identified By Whole Exome Sequencing Reveals Clonal Evolution in Pediatric T-Lymphoblastic Leukemia (2014) (0)
- Publisher Correction: LifeTime and improving European healthcare through cell-based interceptive medicine (2021) (0)
- Abstract 509: Genomic profiling of acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link betweenATMmutations and chromothripsis (2017) (0)
- Identification of an Ultra High-Risk and Targetable Molecular Signature in Relapsed Pediatric T-ALL (2016) (0)
- Recurrent inversion toggling and great ape genome evolution (2020) (0)
- Em-24. Telomerase Inhibition Induces Growth Arrest in Paediatric Ependymoma (2012) (0)
- Korbel Human Genome Paired-End Mapping Reveals Extensive Structural Variation in the (2012) (0)
- HIGH GRADE GLIOMAS AND DIPG (2014) (0)
- Author Correction: Inferring structural variant cancer cell fraction (2022) (0)
- InTAD: chromosome conformation guided analysis of enhancer target genes (2019) (0)
- regions of the effect of variant size , type , and overlap with functional Relating CNVs to transcriptome data at fine resolution : Assessment Material (2011) (0)
- Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes (2023) (0)
- Abstract 1272: MALDI imaging and next generation sequencing for dissecting prostate cancer heterogeneity (2012) (0)
- Molecular Evolution of Ear ly-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories Graphical (2018) (0)
- Comment on"Generalized Shannon--Khinchin axioms and uniqueness theorem for pseudo-additive entropies"[Physica A 411 (2014) 138] (2016) (0)
- Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (2020) (0)
- Whole Exome Sequencing In Relapsed Pediatric T-ALL: Progression Into Relapse Is Characterized By An Increased Number Of Somatic Mutations and a Conservation Of Mutations In Leukemogenic Driver Genes (2013) (0)
- Author Correction: The evolutionary history of 2,658 cancers (2023) (0)
- Oncogenic effects of germline mutations in lysosomal storage disease genes (2018) (0)
- Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection (2018) (0)
- Enriched power of disease-concordant twin-case-only design in detecting interactions in genome-wide association studies (2019) (0)
- Single cell tri-channel-processing reveals structural variation landscapes and complex rearrangement processes (2019) (0)
- Abstract LB-B23: Medulloblastoma regulatory circuitries reveal subgroup-specific cellular origins (2015) (0)
- EPIG-04THE CHROMATIN LANDSCAPE OF MEDULLOBLASTOMA (2015) (0)
- Dense and accurate whole-chromosome haplotyping of individual genomes (2017) (0)
- A New Tool for Custom Protein Design and Engineering - DH10 Bac-TAG (2016) (0)
- Exploring Genetic and Non-Genetic Changes Driving Tumor Evolution in CK-AML at Single-Cell Resolution (2022) (0)
- PASP — a whole-transcriptome poly(A) tail length determination assay for the Illumina platform (2016) (0)
- Abstract A39: Molecular characterization of ETMRs reveals role for R-loop mediated genomic instability and new treatment options (2020) (0)
- EPN-34EPIGENOMIC ANALYSIS OF EPENDYMAL TUMORS IDENTIFIES SUBGROUP SPECIFIC ENHANCERS CONTROLLING DISTINCT REGULATORY CIRCUITRIES (2016) (0)
- Recurrent MET fusion genes represent a druggable target in paediatric glioblastoma 1 2 (2016) (0)
- GENT-07. SUBGROUP SPECIFIC ENHANCERS CONTROL DISTINCT REGULATORY CIRCUITRIES IN EPENDYMAL TUMORS (2016) (0)
- PO-303 Germline determinants of the somatic mutation landscape in 2642 cancer genomes (2018) (0)
- MBCL-44. THE MOLECULAR AND CLINICAL LANDSCAPE OF INFANT MEDULLOBLASTOMA (iMB): RESULTS AND MOLECULAR ANALYSIS FROM A PROSPECTIVE, MULTICENTER PHASE II TRIAL (SJYC07) (2018) (0)
- Germline Elongator mutations in Sonic Hedgehog medulloblastoma (2020) (0)
- A high-resolution map of small-scale inversions in the gibbon genome (2022) (0)
- Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes (2022) (0)
- Author Correction: The NSL complex maintains nuclear architecture stability via lamin A/C acetylation (2023) (0)
- Gene Panel Sequencing of Primary and Relapsed Pediatric T-ALL Shows That Relapse-Specific Mutations Are Diverse and Mostly Non-Recurrent (2015) (0)
- Genomics: data sharing needs an international code of conduct (2020) (0)
- Publisher Correction: Butler enables rapid cloud-based analysis of thousands of human genomes (2020) (0)
- MBCL-21. GERMLINE ELONGATOR MUTATIONS IN SONIC HEDGEHOG MEDULLOBLASTOMA (2020) (0)
- Author Correction: Patterns of somatic structural variation in human cancer genomes (2020) (0)
- Next-generation sequencing-based detection of germline L1-mediated transductions (2016) (0)
- Author Correction: Patterns of somatic structural variation in human cancer genomes (2020) (0)
- Single-cell analysis of structural variations and complex rearrangements with tri-channel processing (2019) (0)
- Mitochondrial mutations drive prostate cancer aggression (2017) (0)
- Heterogeneity of ERG expression in prostate cancer: a large section mapping study of entire prostatectomy specimens from 125 patients (2016) (0)
- Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures (2022) (0)
- Distributional Mellin calculus in $\mathbb{C}^n$, with applications to option pricing (2016) (0)
- Abstract 4594: Recurrent FGFR1 hotspot mutations represent a novel therapeutic target in childhood astrocytoma. (2013) (0)
- Integrative and Computational Biology Joint symposium (2014) (0)
- Thermodynamics of nonequilibrium systems with uncertain parameters (2021) (0)
- Abstract LB-203: Structural variants shuffle chromatin to activate GFI1 family oncogenes in medulloblastoma (2014) (0)
- Histone methylation-modifiers, such as EZH2 and KMT2D, are recurrently altered in B-cell lymphomas. To comprehensively describe the landscape of alterations affecting genes encoding histone methylation-modifiers in lymphomagenesis (2023) (0)
- Abstract 2893: IGF2 is essential for tumor initiating cell activity in human colorectal cancer (2017) (0)
- Author Correction: Genomic basis for RNA alterations in cancer (2023) (0)
- S123: DECODING TRANSCRIPTOMIC AND EPIGENETIC CONSEQUENCES OF STRUCTURAL VARIANTS IN CK-AML AT SINGLE-CELL RESOLUTION (2022) (0)
- University of Southern Denmark Enriched power of disease-concordant twin-case-only design in detecting interactions in genome-wide association studies (2018) (0)
- Thermodynamics of systems with emergent molecule structures (2021) (0)
- variation in the genome MSB : A mean-shift-based approach for the analysis of structural (2008) (0)
- Relapsing Pediatric T-Cell Acute Lymphoblastic Leukemia Downregulates T-Cell Properties and Upregulates Cell Adhesion (2017) (0)
- Balanced and fragmented phases in societies with homophily and social balance (2020) (0)
- jectories of genetics , 150 years after Mendel / Trajectoires de la génétique , 150 ans après Mendel ing large-scale genome variation cohorts to decipher the olecular mechanism of cancer de à grande échelle de variations génétiques pour déchiffrer les (2016) (0)
- No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients (2016) (0)
- The Combination of MRD and Copy Number Alterations (CNAs) Defines an Ultra-High Risk Group of Children with Primary T-Lymphoblastic Leukemia (T-ALL) (2016) (0)
- TP53 and KRAS Variants at Initial Diagnosis Identify an Ultra-High Risk Group of Pediatric T-Lymphoblastic Leukemia (T-ALL) (2021) (0)
- Pediatric T-ALLs Developing into a Type 2 Relapse Originate from Cells That Carry the Potential of Variable Maturation into Subclones with Distinct Chromatin Landscapes (2018) (0)
- Whole Exome Sequencing Identifies Novel Lyst-Missense Mutations In Incomplete Childhood Chediak-Higashi-Syndrome Presenting As Hemphagocytic Lymphohistiocytosis (HLH) (2013) (0)
- genome Structured RNAs in the ENCODE selected regions of the human Related Content (2007) (0)
- Pediatric T-ALLs Developing into a Type 2 Relapse Originate from Cells That Carry the Potential of Variable Maturation into Subclones with Distinct Chromatin Landscapes (2018) (0)
- Impact and characterization of serial structural variations across humans and great apes (2023) (0)
- The molecular landscape of ETMR at diagnosis and relapse (2019) (0)
- COMPARISON OF CONVENTIONAL CYTOGENETIC ANALYSIS AND WHOLE GENOME SEQUENCING IN GERMINAL-CENTER DERIVED B-CELL LYMPHOMAS IN THE FRAMEWORK OF THE ICGC MMML-SEQ PROJECT (2014) (0)
- Inversion polymorphism in a complete human genome assembly (2022) (0)
- Genomic basis for RNA alterations in cancer (2020) (0)
- Thermodynamics of small systems with emergent structures (2020) (0)
- Versatile workflow for storage, characterization and cell-type resolved transcriptional and epigenetic profiling of human lung samples. (2020) (0)
- Longitudinal Multilevel Omic Analysis of Pediatric T-ALL Reveals Distinct Mechanisms for Disease Progression in Type 1 and in Type 2 Relapses (2018) (0)
- loci ENCODE regions : Associating transcription with known and novel The DART classification of unannotated transcription within the Material Supplemental (2007) (0)
- Effects of the COVID-19 pandemic on life scientists (2020) (0)
- Abstract LB-305: A computational approach to identify recurrent somatic driver events in noncoding regions in human cancers (2015) (0)
- First Results from the International Cancer Genome Consortium PedBrain Tumor Project on Whole-Genome Deep Sequencing in Medulloblastoma (2011) (0)
- Whole-Exome Sequencing Links CARD11 Inactivation with SCID (2012) (0)
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