Lista de obras - Jan Korbel - Dominio Público Uruguay

A cell-based model system links chromothripsis with hyperploidy

artículo científico publicado en 2015

A comprehensive map of mobile element insertion polymorphisms in humans

artículo científico publicado en 2011

A draft human pangenome reference

scientific article published on 10 May 2023

A scalable CRISPR/Cas9-based fluorescent reporter assay to study DNA double-strand break repair choice

artículo científico publicado en 2020

A structured open dataset of government interventions in response to COVID-19

artículo científico publicado en 2020

A structured open dataset of government interventions in response to COVID-19

artículo científico publicado en 2020

A supervised hidden markov model framework for efficiently segmenting tiling array data in transcriptional and chIP-chip experiments: systematically incorporating validated biological knowledge

artículo científico publicado en 2006

Acquisition of chromosome instability is a mechanism to evade oncogene addiction

artículo científico publicado en 2020

Active medulloblastoma enhancers reveal subgroup-specific cellular origins

artículo científico publicado en 2016

Alterations of microRNA and microRNA-regulated messenger RNA expression in germinal center B-cell lymphomas determined by integrative sequencing analysis

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

article

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms ⬇️

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

artículo científico publicado en 2016

Author Correction: The landscape of genomic alterations across childhood cancers

artículo científico publicado en 2018

BAZ2A (TIP5) is involved in epigenetic alterations in prostate cancer and its overexpression predicts disease recurrence

artículo científico publicado en 2014

Butler enables rapid cloud-based analysis of thousands of human genomes

artículo científico publicado en 2020

Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond

artículo científico

Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors

artículo científico publicado en 2020

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

artículo científico publicado en 2014

Combining frequency and positional information to predict transcription factor binding sites

artículo científico publicado en 2001

Comment on "Rényi entropy yields artificial biases not in the data and incorrect updating due to the finite-size data"

scientific article published on 01 August 2019

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

scientific article published on 27 December 2018

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

artículo científico publicado en 2014

Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

artículo científico publicado en 2012

Criteria for Inference of Chromothripsis in Cancer Genomes ⬇️

artículo científico publicado el 14 de marzo de 2013

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

artículo científico publicado en 2012

Deletion lengthening at chromosomes 6q and 16q targets multiple tumor suppressor genes and is associated with an increasingly poor prognosis in prostate cancer

artículo científico publicado en 2017

Dense and accurate whole-chromosome haplotyping of individual genomes.

artículo científico publicado en 2017

Dissecting the genomic complexity underlying medulloblastoma

artículo científico publicado en 2012

Distinct genomic aberrations associated with ERG rearranged prostate cancer

artículo científico publicado en 2009

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

artículo científico publicado en 2012

EPIG-04THE CHROMATIN LANDSCAPE OF MEDULLOBLASTOMA.

artículo científico publicado en 2015

EPN-34EPIGENOMIC ANALYSIS OF EPENDYMAL TUMORS IDENTIFIES SUBGROUP SPECIFIC ENHANCERS CONTROLLING DISTINCT REGULATORY CIRCUITRIES.

artículo científico publicado en 2016

Empirical social triad statistics can be explained with dyadic homophylic interactions

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

artículo científico publicado en 2014

Extracting information from cDNA arrays

artículo científico publicado en 2001

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

artículo científico publicado en 2020

GE-23ENHANCER HIJACKING ACTIVATES GFI1 FAMILY ONCOGENES IN MEDULLOBLASTOMA.

artículo científico publicado en 2014

Genetic code expansion for multiprotein complex engineering.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma

artículo científico publicado en 2019

Genomic data sharing in Europe is stumbling-Could a code of conduct prevent its fall?

artículo científico publicado en 2020

Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy.

artículo científico publicado en 2017

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

scientific article published on 01 April 2020

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma

artículo científico publicado en 2019

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

article

Global identification and characterization of transcriptionally active regions in the rice genome

artículo científico publicado en 2007

Heterogeneity of ERG expression in prostate cancer: a large section mapping study of entire prostatectomy specimens from 125 patients.

artículo científico publicado en 2016

High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution

artículo científico publicado en 2008

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

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

artículo científico publicado en 2006

Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression

artículo científico publicado en 2019

ICGC PedBrain - dissecting the genomic complexity underlying medulloblastoma using whole-genome sequencing

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing

artículo científico publicado en 2012

Information Geometric Duality of <i>ϕ</i>-Deformed Exponential Families

scientific article published on 24 January 2019

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

artículo científico publicado en 2013

International network of cancer genome projects

artículo científico publicado en 2010

MB-25REGULATION OF MEDULLOBLASTOMA FORMATION BY Gfi1 AND Gfi1b.

artículo científico publicado en 2015

MBCL-44. THE MOLECULAR AND CLINICAL LANDSCAPE OF INFANT MEDULLOBLASTOMA (iMB): RESULTS AND MOLECULAR ANALYSIS FROM A PROSPECTIVE, MULTICENTER PHASE II TRIAL (SJYC07)

MSB: a mean-shift-based approach for the analysis of structural variation in the genome

artículo científico publicado en 2008

Mapping copy number variation by population-scale genome sequencing

artículo científico publicado en 2011

Maximum Entropy Principle in Statistical Inference: Case for Non-Shannonian Entropies

scientific article published on 01 March 2019

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

scientific article published on 01 February 2019

Mitochondrial mutations drive prostate cancer aggression

artículo científico publicado en 2017

Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories

artículo científico publicado en 2018

Multi-platform discovery of haplotype-resolved structural variation in human genomes

artículo científico publicado en 2019

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

artículo científico publicado en 2016

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

artículo científico publicado en 2010

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia

scientific article published on 01 December 2018

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

artículo científico publicado en 2009

PM-09REGULATION OF MEDULLOBLASTOMA FORMATION BY Gfi1 AND Gfi1B

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Pan-cancer analysis distinguishes transcriptional changes of aneuploidy from proliferation

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

artículo científico publicado en 2020

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

scientific article published on 11 April 2022

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

artículo científico publicado el 1 de febrero de 2013

Point Divergence Gain and Multidimensional Data Sequences Analysis

scientific article published on 03 February 2018

Predicting collapse of adaptive networked systems without knowing the network

artículo científico publicado en 2020

Prediction of effective genome size in metagenomic samples

artículo científico publicado en 2007

Publisher Correction: Butler enables rapid cloud-based analysis of thousands of human genomes

artículo científico publicado en 2020

Quantifying environmental adaptation of metabolic pathways in metagenomics

artículo científico publicado en 2009

Recurrent inversion toggling and great ape genome evolution

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial

scientific article published on 16 May 2018

SHOT: a web server for the construction of genome phylogenies

artículo científico publicado en 2002

STRUCTURAL VARIANTS SHUFFLE CHROMATIN TO ACTIVATE GFI1 FAMILY ONCOGENES IN MEDULLOBLASTOMA.

artículo científico publicado en 2014

Similar gene expression profiles do not imply similar tissue functions

artículo científico publicado en 2006

Single-cell analysis of structural variations and complex rearrangements with tri-channel processing

artículo científico publicado en 2019

Somatic structural variant formation is guided by and influences genome architecture

artículo científico publicado en 2022

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort

artículo científico publicado en 2018

Structured RNAs in the ENCODE selected regions of the human genome

artículo científico publicado en 2007

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

artículo científico publicado en 2012

Systematic Identification of Determinants for Single Strand Annealing Mediated Deletion Formation in Saccharomyces cerevisiae

artículo científico publicado en 2017

Systematic association of genes to phenotypes by genome and literature mining

artículo científico publicado en 2005

Systematic discovery of analogous enzymes in thiamin biosynthesis

artículo científico publicado en 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Systems approaches identify the consequences of monosomy in somatic human cells

artículo científico publicado en 2021

TB-17A COMPREHENSIVE PAN-CANCER ANALYSIS OF CHILDHOOD MALIGNANCIES.

artículo científico publicado en 2016

TMPRSS2-ERG fusions are strongly linked to young patient age in low-grade prostate cancer

artículo científico publicado en 2014

Targeted Perturb-seq enables genome-scale genetic screens in single cells

artículo científico publicado en 2020

The DART classification of unannotated transcription within the ENCODE regions: associating transcription with known and novel loci

artículo científico publicado en 2007

The Helmholtz Network for Bioinformatics: an integrative web portal for bioinformatics resources.

artículo científico publicado en 2004

The NSL complex maintains nuclear architecture stability via lamin A/C acetylation

artículo científico publicado en 2019

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

artículo científico publicado en 2010

The current excitement about copy-number variation: how it relates to gene duplications and protein families

artículo científico publicado en 2008

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

scholarly article

The landscape of genomic alterations across childhood cancers

artículo científico publicado en 2018

The molecular landscape of ETMR at diagnosis and relapse

scientific article published on 04 December 2019

The whole-genome landscape of medulloblastoma subtypes

artículo científico publicado en 2017

Transgene methylation in mice reflects copy number but not expression level.

artículo científico publicado en 2004

Tsallis thermostatics as a statistical physics of random chains. ⬇️

artículo científico publicado en 2017

Use of pathway analysis and genome context methods for functional genomics of Mycoplasma pneumoniae nucleotide metabolism

article

Variation in transcription factor binding among humans

artículo científico publicado en 2010

Lista de obras de Jan Korbel

A cell-based model system links chromothripsis with hyperploidy

A comprehensive map of mobile element insertion polymorphisms in humans

A draft human pangenome reference

A scalable CRISPR/Cas9-based fluorescent reporter assay to study DNA double-strand break repair choice

A structured open dataset of government interventions in response to COVID-19

A structured open dataset of government interventions in response to COVID-19

A supervised hidden markov model framework for efficiently segmenting tiling array data in transcriptional and chIP-chip experiments: systematically incorporating validated biological knowledge

Acquisition of chromosome instability is a mechanism to evade oncogene addiction

Active medulloblastoma enhancers reveal subgroup-specific cellular origins

Alterations of microRNA and microRNA-regulated messenger RNA expression in germinal center B-cell lymphomas determined by integrative sequencing analysis

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

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

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms ⬇️

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

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

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

Author Correction: The landscape of genomic alterations across childhood cancers

BAZ2A (TIP5) is involved in epigenetic alterations in prostate cancer and its overexpression predicts disease recurrence

Butler enables rapid cloud-based analysis of thousands of human genomes

Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond

Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors

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

Combining frequency and positional information to predict transcription factor binding sites

Comment on "Rényi entropy yields artificial biases not in the data and incorrect updating due to the finite-size data"

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Criteria for Inference of Chromothripsis in Cancer Genomes ⬇️

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

Deletion lengthening at chromosomes 6q and 16q targets multiple tumor suppressor genes and is associated with an increasingly poor prognosis in prostate cancer

Dense and accurate whole-chromosome haplotyping of individual genomes.

Dissecting the genomic complexity underlying medulloblastoma

Distinct genomic aberrations associated with ERG rearranged prostate cancer

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

EPIG-04THE CHROMATIN LANDSCAPE OF MEDULLOBLASTOMA.

EPN-34EPIGENOMIC ANALYSIS OF EPENDYMAL TUMORS IDENTIFIES SUBGROUP SPECIFIC ENHANCERS CONTROLLING DISTINCT REGULATORY CIRCUITRIES.

Empirical social triad statistics can be explained with dyadic homophylic interactions

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

Extracting information from cDNA arrays

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

GE-23ENHANCER HIJACKING ACTIVATES GFI1 FAMILY ONCOGENES IN MEDULLOBLASTOMA.

Genetic code expansion for multiprotein complex engineering.

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

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

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma

Genomic data sharing in Europe is stumbling-Could a code of conduct prevent its fall?

Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy.

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

Global identification and characterization of transcriptionally active regions in the rice genome

Heterogeneity of ERG expression in prostate cancer: a large section mapping study of entire prostatectomy specimens from 125 patients.

High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution

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

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression

ICGC PedBrain - dissecting the genomic complexity underlying medulloblastoma using whole-genome sequencing

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

Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing

Information Geometric Duality of <i>ϕ</i>-Deformed Exponential Families

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

International network of cancer genome projects

MB-25REGULATION OF MEDULLOBLASTOMA FORMATION BY Gfi1 AND Gfi1b.

MBCL-44. THE MOLECULAR AND CLINICAL LANDSCAPE OF INFANT MEDULLOBLASTOMA (iMB): RESULTS AND MOLECULAR ANALYSIS FROM A PROSPECTIVE, MULTICENTER PHASE II TRIAL (SJYC07)

MSB: a mean-shift-based approach for the analysis of structural variation in the genome

Mapping copy number variation by population-scale genome sequencing

Maximum Entropy Principle in Statistical Inference: Case for Non-Shannonian Entropies

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

Mitochondrial mutations drive prostate cancer aggression

Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories

Multi-platform discovery of haplotype-resolved structural variation in human genomes

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

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

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

PM-09REGULATION OF MEDULLOBLASTOMA FORMATION BY Gfi1 AND Gfi1B

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

Pan-cancer analysis distinguishes transcriptional changes of aneuploidy from proliferation

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