Jan O. Korbel
- A draft human pangenome reference
2023/05/10 by Wen‐Wei Liao, Mobin Asri, Jana Ebler +97 · 81 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Genetic Neurodegenerative Diseases #Genomics and Rare Diseases
- Eleven grand challenges in single-cell data science
2020/02/07 by David Lähnemann, Johannes Köster, Ewa Szczurek +48 · 28 citations
Biochemistry, Genetics and Molecular Biology · #Single-cell and spatial transcriptomics #Cell Image Analysis Techniques #Gene Regulatory Network Analysis
- Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
2020/02/05 by Ruibin Xi, Dhawal Jain, Youngsook L. Jung +1341 · 11 citations
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Criteria for Inference of Chromothripsis in Cancer Genomes
2013/03/01 by Jan O. Korbel, Jan O. Korbel, Peter J. Campbell +1 · 5 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Chromatin Dynamics #Genomic variations and chromosomal abnormalities #Gene expression and cancer classification
- Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
2022/05/01 by David Porubsky, David Porubskỳ, Wolfram Höps +25 · 1 voice · 6 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Medicine · #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities #Prenatal Screening and Diagnostics
- Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation
2024/10/17 by Charikleia Karageorgiou, Kwondo Kim, Petar Pajic +20 · 2 voices · 7 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- AlphaDesign: a de novo protein design framework based on AlphaFold
2025/06/17 by Michael Jendrusch, Alessio Ling Jie Yang, Elisabetta Cacace +12 · 1 voice · 5 citations
Biochemistry, Genetics and Molecular Biology · #Bacterial Genetics and Biotechnology #Protein Structure and Dynamics #RNA and protein synthesis mechanisms
- Smart Microscopy: Current Implementations and a Roadmap for Interoperability
2025/08/20 by Lucien Hinderling, Hannah S. Heil, Alfredo Rates +32 · 1 voice · 4 citations
Biochemistry, Genetics and Molecular Biology · Engineering · #Cell Image Analysis Techniques #Image Processing Techniques and Applications
- SVarp: pangenome-based structural variant discovery
2024/02/18 by Arda Söylev, Jana Ebler, Samarendra Pani +3 · 1 voice · 2 citations
Biochemistry, Genetics and Molecular Biology · #Biomedical Text Mining and Ontologies #Genetics, Bioinformatics, and Biomedical Research #Genomics and Phylogenetic Studies
- Smart microscopy: current implementations and a roadmap for interoperability
2026/02/21 by Lucien Hinderling, Hannah S. Heil, Alfredo Rates +33 · 2 voices · 5 citations
Biochemistry, Genetics and Molecular Biology · Engineering · #Cell Image Analysis Techniques #Image Processing Techniques and Applications #Advanced Fluorescence Microscopy Techniques
- The Federated European Genome–Phenome Archive as a global network for sharing human genomics data
2025/03/01 by Teresa D’Altri, Mallory Freeberg, Mallory Ann Freeberg +32 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · Environmental Science · #Bioinformatics and Genomic Networks #Gene expression and cancer classification #Health, Environment, Cognitive Aging