Niko Popitsch

Senior Bioinformatician, University of Vienna

Research Expertise

Bioinformatics
Genetics (clinical)
Genetics
Molecular Biology
Cell Biology
Cancer Research
Oncology
Computer Networks and Communications
Software
Molecular Medicine
Biotechnology
Developmental Biology
Statistics and Probability
Modeling and Simulation

Legacy Map

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Publications

Faculty Opinions recommendation of Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
2015
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
Genetics in Medicine
2020
Sequencing of human genomes with nanopore technology
Nature Communications
2019
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
Genetics in Medicine
2018
The Borrelia burgdorferi RelA/SpoT Homolog and Stringent Response Regulate Survival in the Tick Vector and Global Gene Expression during Starvation
PLOS Pathogens
2015
Revisiting the coding potential of theE. coligenome through Hfq co-immunoprecipitation
RNA Biology
2014
Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
Human Molecular Genetics
2015
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
European Journal of Human Genetics
2017
Novel Clinically Relevant Genes in Gastrointestinal Stromal Tumors Identified by Exome Sequencing
Clinical Cancer Research
2013
NGC: lossless and lossy compression of aligned high-throughput sequencing data
Nucleic Acids Research
2012
DSNotify
Proceedings of the 19th international conference on World wide web
2010
In vivoexpression technology and 5′ end mapping of theBorrelia burgdorferitranscriptome identify novel RNAs expressed during mammalian infection
Nucleic Acids Research
2016
DSNotify – A solution for event detection and link maintenance in dynamic datasets
Journal of Web Semantics
2011
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
Human Molecular Genetics
2015
Impaired plasticity of macrophages in X-linked adrenoleukodystrophy
Brain
2018
Assessment of Pre-Analytical Sample Handling Conditions for Comprehensive Liquid Biopsy Analysis
The Journal of Molecular Diagnostics
2020
Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia
Blood
2021
Temperature-dependent sRNA transcriptome of the Lyme disease spirochete
BMC Genomics
2017
Natural RNA Polymerase Aptamers Regulate Transcription in E. coli
Molecular Cell
2017
DSNotify - Detecting and Fixing Broken Links in Linked Data Sets
2009 20th International Workshop on Database and Expert Systems Application
2009
Spectrum of gene mutations detected by next generation exome sequencing in brain metastases of lung adenocarcinoma
European Journal of Cancer
2015
CD371 cell surface expression: a unique feature of DUX4-rearranged acute lymphoblastic leukemia
Haematologica
2019
Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations
Journal of Neuro-Oncology
2017
Hijacking of transcriptional condensates by endogenous retroviruses
Nature Genetics
2022
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis
PLOS ONE
2016
Interweaving OAI-PMH data sources with the linked data cloud
International Journal of Metadata, Semantics and Ontologies
2010
A-to-I RNA Editing Uncovers Hidden Signals of Adaptive Genome Evolution in Animals
Genome Biology and Evolution
2020
An inhibitor of complement C5 provides structural insights into activation
Proceedings of the National Academy of Sciences
2019
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing
Molecular Case Studies
2018
Supporting meetings with a goal-driven service-oriented multimedia environment
Proceedings of the first ACM international workshop on Multimedia service composition
2005
METIS: a flexible foundation for the unified management of multimedia assets
Multimedia Tools and Applications
2007
METIS
Proceedings of the 12th annual ACM international conference on Multimedia
2004
Shep interacts with posttranscriptional regulators to control dendrite morphogenesis in sensory neurons
Developmental Biology
2018
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer
Molecular Case Studies
2017
ReliableGenome: annotation of genomic regions with high/low variant calling concordance
Bioinformatics
2016
Performance optimization of the ORION peer-to-peer file sharing protocol for mobile Ad Hoc networks using unicast messaging
Unknown Venue
CODOC: efficient access, analysis and compression of depth of coverage signals
Bioinformatics
2014
Targeting foam cell formation in inflammatory brain diseases by the histone modifier MS‐275
Annals of Clinical and Translational Neurology
2020
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data
Nucleic Acids Research
2022
iPres 2016: 13th International Conference on Digital Preservation, Bern, Switzerland
Preservation, Digital Technology & Culture
2017
DeepSNP: An End-to-End Deep Neural Network with Attention-Based Localization for Breakpoint Detection in Single-Nucleotide Polymorphism Array Genomic Data
Journal of Computational Biology
2019
VARAN-GIE: curation of genomic interval sets
Bioinformatics
2018
Identifying High-Risk CLL to Predict Early Relapse after FCR Based Treatment Using Whole Genome Sequencing: First Results from the Genomics England CLL Pilot
Blood
2016
Keep your triples together
Proceedings of the 7th International Conference on Semantic Systems
2011
An Evaluation Approach for Dynamics-Aware Applications Using Linked Data
2010 Workshops on Database and Expert Systems Applications
2010
Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data
Bioinformatics
2021
PF376 DIFFERENTIAL GENOMIC AND TRANSCRIPTOMIC EVENTS ASSOCIATED WITH HIGH-GRADE TRANSFORMATION OF CHRONIC LYMPHOCYTIC LEUKEMIA
HemaSphere
2019
Correction: The Borrelia burgdorferi RelA/SpoT Homolog and Stringent Response Regulate Survival in the Tick Vector and Global Gene Expression during Starvation
PLOS Pathogens
2015
The MEKETREpository - Middle Kingdom Tomb and Artwork Descriptions on the Web
Research and Advanced Technology for Digital Libraries
2011
Technologies for Semantic Project-Driven Work Environments
Emerging Technologies for Semantic Work Environments
2008
mRNA stability and m6A are major determinants of subcellular mRNA localization in neurons
Molecular Cell
2023
The identification of protein and RNA interactors of the splicing factor Caper in the adult Drosophila nervous system
Frontiers in Molecular Neuroscience
2023
GREEN-DB: A framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data
Unknown Venue
2020
Deep SNP: An End-to-end Deep Neural Network with Attention-based Localization for Break-point Detection in SNP Array Genomic data
Unknown Venue
2018
Transcriptome-Wide Profiling of RNA Stability
Methods in Molecular Biology
2021
Abstract B28: A cross-species enhancer activity analysis approach to identify the Ewing sarcoma cell of origin
Cancer Research
2020
A novel inhibitor of complement C5 provides structural insights into activation
Unknown Venue
2019
Identifikation einer Heterozygoten RIT1-Mutation in einem fetalen Fall von Noonan Syndrom mit gonadoblastoider, testiculärer Dysplasie mittels Exom-Sequenzierung
Geburtshilfe und Frauenheilkunde
2015
Warren, Prof. Graham Barry, (born 25 Feb. 1948), Scientific Director, Max F. Perutz Laboratories, Vienna, 2007–17, now Professor Emeritus, University and Medical University of Vienna
Who's Who
2007
WebS 2012 Workshop Committee
2012 23rd International Workshop on Database and Expert Systems Applications
2012
Dynamically Generated Scalable Vector Graphics (SVG) for Barrier-Free Web-Applications
Lecture Notes in Computer Science
2006
DISCLOSURE OF FUNDING ARRANGEMENTS Disclosure of the funding arrangement
Civil Procedure
2012
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