User profiles for J. Korbel
Jan KorbelHead of Data Science, EMBL & Bridging Research Division Head, DKFZ, Heidelberg Verified email at embl.de Cited by 88331 |
[HTML][HTML] Eleven grand challenges in single-cell data science
The recent boom in microfluidics and combinatorial indexing strategies, combined with low
sequencing costs, has empowered single-cell sequencing technology. Thousands—or even …
sequencing costs, has empowered single-cell sequencing technology. Thousands—or even …
What is a gene, post-ENCODE? History and updated definition
While sequencing of the human genome surprised us with how many protein-coding genes
there are, it did not fundamentally change our perspective on what a gene is. In contrast, the …
there are, it did not fundamentally change our perspective on what a gene is. In contrast, the …
Toward understanding and exploiting tumor heterogeneity
The extent of tumor heterogeneity is an emerging theme that researchers are only beginning
to understand. How genetic and epigenetic heterogeneity affects tumor evolution and …
to understand. How genetic and epigenetic heterogeneity affects tumor evolution and …
[HTML][HTML] An integrated map of structural variation in 2,504 human genomes
Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …
nucleotides among human genomes. Here we describe an integrated set of eight structural …
Driver mutations in histone H3. 3 and chromatin remodelling genes in paediatric glioblastoma
Glioblastoma multiforme (GBM) is a lethal brain tumour in adults and children. However,
DNA copy number and gene expression signatures indicate differences between adult and …
DNA copy number and gene expression signatures indicate differences between adult and …
Comprehensive genomic profiles of small cell lung cancer
We have sequenced the genomes of 110 small cell lung cancers (SCLC), one of the deadliest
human cancers. In nearly all the tumours analysed we found bi-allelic inactivation of TP53 …
human cancers. In nearly all the tumours analysed we found bi-allelic inactivation of TP53 …
DELLY: structural variant discovery by integrated paired-end and split-read analysis
… j are within the expected insert size range. The weight of edge e v i v j , denoted as w(e v i v j
)… mapping locations of the paired-ends p i and p j , respectively. Since this is not possible for …
)… mapping locations of the paired-ends p i and p j , respectively. Since this is not possible for …
Paired-end mapping reveals extensive structural variation in the human genome
Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications,
insertions, inversions, and complex combinations of rearrangements. We introduce high…
insertions, inversions, and complex combinations of rearrangements. We introduce high…
[PDF][PDF] Severe COVID-19 is marked by a dysregulated myeloid cell compartment
Coronavirus disease 2019 (COVID-19) is a mild to moderate respiratory tract infection, however,
a subset of patients progress to severe disease and respiratory failure. The mechanism …
a subset of patients progress to severe disease and respiratory failure. The mechanism …
Mapping copy number variation by population-scale genome sequencing
Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …
variation in extent, origin and functional impact. Despite progress in SV characterization, the …