about
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectHigh-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.DELLY: structural variant discovery by integrated paired-end and split-read analysisInternational network of cancer genome projects.Mapping copy number variation by population-scale genome sequencingDissecting the genomic complexity underlying medulloblastomaNucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint libraryPaired-end mapping reveals extensive structural variation in the human genomeStructured RNAs in the ENCODE selected regions of the human genomeThe DART classification of unannotated transcription within the ENCODE regions: associating transcription with known and novel lociSystematic association of genes to phenotypes by genome and literature miningCriteria for inference of chromothripsis in cancer genomesSubgroup-specific structural variation across 1,000 medulloblastoma genomesQuantifying environmental adaptation of metabolic pathways in metagenomicsPEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing dataDriver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastomaAnalysis of genomic context: prediction of functional associations from conserved bidirectionally transcribed gene pairsA supervised hidden markov model framework for efficiently segmenting tiling array data in transcriptional and chIP-chip experiments: systematically incorporating validated biological knowledge.Global identification and characterization of transcriptionally active regions in the rice genomeHigh-resolution copy-number variation map reflects human olfactory receptor diversity and evolution.The baker's yeast diploid genome is remarkably stable in vegetative growth and meiosisSystematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversityRelating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.A comprehensive map of mobile element insertion polymorphisms in humansVariation in transcription factor binding among humans.Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.Phenotypic impact of genomic structural variation: insights from and for human disease.Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing.Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking.The current excitement about copy-number variation: how it relates to gene duplications and protein families.Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.Assembly and diploid architecture of an individual human genome via single-molecule technologies.Systematic prediction and validation of breakpoints associated with copy-number variants in the human genomeSimilar gene expression profiles do not imply similar tissue functions.Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing.Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary historyDistinct genomic aberrations associated with ERG rearranged prostate cancerThe genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomiesChallenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond.Systematic Identification of Determinants for Single Strand Annealing Mediated Deletion Formation in Saccharomyces cerevisiae
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description
hulumtues
@sq
researcher
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ricercatore
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wetenschapper
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հետազոտող
@hy
name
Jan Korbel
@ast
Jan Korbel
@en
Jan Korbel
@es
Jan Korbel
@nl
Jan Korbel
@sl
type
label
Jan Korbel
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Jan Korbel
@en
Jan Korbel
@es
Jan Korbel
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Jan Korbel
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altLabel
Jan O Korbel
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prefLabel
Jan Korbel
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Jan Korbel
@en
Jan Korbel
@es
Jan Korbel
@nl
Jan Korbel
@sl
P214
P1053
G-6470-2012
P106
P21
P214
P31
P3829
P496
0000-0002-2798-3794
P734
P735
P7859
viaf-67571276