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Authors whose works are in public domain in at least one jurisdiction

List of works by Jan Korbel

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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007
International network of cancer genome projects

scientific article
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

scientific article (publication date: 29 January 2012)
Mapping copy number variation by population-scale genome sequencing

scientific article
Paired-end mapping reveals extensive structural variation in the human genome

scientific article
DELLY: structural variant discovery by integrated paired-end and split-read analysis

scientific article
Dissecting the genomic complexity underlying medulloblastoma

scientific article
Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

scientific article
Subgroup-specific structural variation across 1,000 medulloblastoma genomes

scientific article
Variation in transcription factor binding among humans

scientific article
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

scientific article
Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

scientific article
Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

scientific article
Assembly and diploid architecture of an individual human genome via single-molecule technologies

scientific article published on 29 June 2015
Criteria for Inference of Chromothripsis in Cancer Genomes

scientific article published on March 14, 2013
Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

scientific article
Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer

scientific article
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

scholarly article
Phenotypic impact of genomic structural variation: insights from and for human disease

scientific article published on February 1, 2013
Prediction of effective genome size in metagenomic samples

scientific article published on January 2007
A comprehensive map of mobile element insertion polymorphisms in humans

scientific article
The landscape of genomic alterations across childhood cancers

scientific article published on 28 February 2018
The whole-genome landscape of medulloblastoma subtypes

scientific article published in July 2017
PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

scientific article (publication date: 23 February 2009)
Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

scientific article
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

scientific article
Analysis of genomic context: prediction of functional associations from conserved bidirectionally transcribed gene pairs

scientific article (publication date: July 2004)
Active medulloblastoma enhancers reveal subgroup-specific cellular origins

scientific article published on 27 January 2016
Quantifying environmental adaptation of metabolic pathways in metagenomics

scientific article
Structured RNAs in the ENCODE selected regions of the human genome

scientific article
Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking.

scientific article
High-resolution genomic profiling of chronic lymphocytic leukemia reveals new recurrent genomic alterations

Systematic association of genes to phenotypes by genome and literature mining

scientific article
SHOT: a web server for the construction of genome phylogenies

scientific article published on 01 March 2002
High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

scientific article
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies

article
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

scientific article published on 08 October 2008
Multi-platform discovery of haplotype-resolved structural variation in human genomes

scientific article published on 16 April 2019
High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution

scientific article
Distinct genomic aberrations associated with ERG rearranged prostate cancer

scientific article published on April 2009
BAZ2A (TIP5) is involved in epigenetic alterations in prostate cancer and its overexpression predicts disease recurrence

scientific article
Systematic discovery of analogous enzymes in thiamin biosynthesis

scientific article
Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

scientific article
The baker's yeast diploid genome is remarkably stable in vegetative growth and meiosis

scientific article
Clinical significance of different types of p53 gene alteration in surgically treated prostate cancer

scientific article published on 26 April 2014
The current excitement about copy-number variation: how it relates to gene duplications and protein families

scientific article
Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome

scholarly article
Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity

scientific article
A cell-based model system links chromothripsis with hyperploidy

scientific article published on 28 September 2015
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

scientific article published on June 2015

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