Tobias Rausch
A5038740400- Genomics and Phylogenetic Studies
- Cancer Genomics and Diagnostics
- Acute Lymphoblastic Leukemia research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Chronic Lymphocytic Leukemia Research
- RNA and protein synthesis mechanisms
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- MicroRNA in disease regulation
- Genetics, Bioinformatics, and Biomedical Research
- Cancer-related molecular mechanisms research
- Bioinformatics and Genomic Networks
- Machine Learning in Bioinformatics
- Hedgehog Signaling Pathway Studies
- Glioma Diagnosis and Treatment
- SARS-CoV-2 and COVID-19 Research
- Single-cell and spatial transcriptomics
- Viral-associated cancers and disorders
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- T-cell and Retrovirus Studies
European Molecular Biology Laboratory
2016-2025
Heidelberg University
2015-2024
European Molecular Biology Laboratory
2012-2024
University Hospital Heidelberg
2018-2024
European Molecular Biology Organization
2015-2024
Genomics (United Kingdom)
2024
LMU Klinikum
2019
Ludwig-Maximilians-Universität München
2019
European Bioinformatics Institute
2011-2013
Freie Universität Berlin
2008-2010
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set eight structural variant classes comprising both balanced unbalanced variants, which constructed using short-read DNA sequencing data statistically phased onto haplotype blocks 26 populations. Analysing this set, identify gene-intersecting exhibiting population stratification naturally occurring homozygous gene knockouts that suggest...
Abstract Motivation: The discovery of genomic structural variants (SVs) at high sensitivity and specificity is an essential requirement for characterizing naturally occurring variation understanding pathological somatic rearrangements in personal genome sequencing data. Of particular interest are integrated methods that accurately identify simple complex heterogeneous datasets single-nucleotide resolution, as optimal basis investigating the formation mechanisms functional consequences SVs....
Medulloblastoma is the most common brain tumour in children; using whole-genome sequencing of samples authors show that clinically challenging Group 3 and 4 tumours can be tetraploid, reveal expression first medulloblastoma fusion genes identified. malignant children. Four papers published 2 August 2012 issue Nature use other techniques to produce a detailed picture genetics genomics this condition. Notable findings include identification recurrent mutations not previously implicated...
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies human genetic diversity and disease association. Here, we apply a suite long-read, short-read, strand-specific technologies, optical mapping, variant discovery algorithms to comprehensively analyze three trios define the full spectrum variation in haplotype-resolved manner. We identify 818,054 indel (<50 bp) 27,622 SVs (≥50 per genome. also discover 156 inversions genome 58 intersect...
The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome sequencing (WGS) data consented for public distribution without access or use restrictions. final, phase 3 release 1kGP included 2,504 unrelated samples from 26 populations and was based primarily on low-coverage WGS. Here, we present a high-coverage 3,202-sample WGS resource, which now includes 602 complete trios, sequenced to depth 30X using Illumina. We performed single-nucleotide variant (SNV) short...
Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent-child trio data. We present 64 assembled haplotypes from 32 diverse genomes. These highly contiguous haplotype assemblies (average minimum contig length needed to cover 50% genome: 26 million base pairs) integrate all forms genetic variation, even across complex loci. identified 107,590 structural variants (SVs), which 68% were not...
HeLa is the most widely used model cell line for studying human cellular and molecular biology. To date, no genomic reference this has been released, experiments have relied on genome. Effective design interpretation of genetic studies performed using cells require accurate information. Here we present a detailed transcriptomic characterization line. We DNA RNA sequencing Kyoto analyzed its mutational portfolio gene expression profile. Segmentation genome according to copy number revealed...
The use of novel algorithmic techniques is pivotal to many important problems in life science. For example the sequencing human genome 1 would not have been possible without advanced assembly algorithms. However, owing high speed technological progress and urgent need for bioinformatics tools, there a widening gap between state-of-the-art actual components tools that are widespread use.To remedy this trend we propose SeqAn, library efficient data types algorithms sequence analysis...
Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma genes have not been defined and screening guidelines for genetic counselling testing paediatric patients are available. We aimed to assess define these provide evidence future guidelines.
Abstract Typical genotyping workflows map reads to a reference genome before identifying genetic variants. Generating such alignments introduces biases and comes with substantial computational burden. Furthermore, short-read lengths limit the ability characterize repetitive genomic regions, which are particularly challenging for fast k -mer-based genotypers. In present study, we propose new algorithm, PanGenie, that leverages haplotype-resolved pangenome together -mer counts from sequencing...
Pancreatic ductal adenocarcinoma (PDAC) often arises from preexisting cystic lesions such as intraductal papillary mucinous neoplasms (IPMN) and (MCN). This study investigated the molecular heterogeneity mutational landscape of MCN in relation to PDAC, highlighting significance KRAS mutations tumor progression. Utilizing targeted next-generation sequencing on low-grade invasive PDAC samples, we identified a substantial overlap profiles, particularly KRAS, TP53, FBXW7. Specifically, 69.2%...
Second-generation sequencing technologies deliver DNA sequence data at unprecedented high throughput. Common to most biological applications is a mapping of the reads an almost identical or highly similar reference genome. Due large amounts data, efficient algorithms and implementations are crucial for this task. We present read tool called RazerS. It allows user align arbitrary length using either Hamming distance edit distance. Our can work lossless with user-defined loss rate higher...
Short tandem repeats (STRs) and variable number (VNTRs) are important sources of natural disease-causing variation, yet they have been problematic to resolve in reference genomes genotype with short-read technology. We created a framework model the evolution instability STRs VNTRs apes. phased assembled 3 ape (chimpanzee, gorilla, orangutan) using long-read 10x Genomics linked-read sequence data for 21,442 human discovered 6 haplotype-resolved assemblies Yoruban, Chinese, Puerto Rican...
DNA sequencing is at the core of many molecular biology laboratories. Despite its long history, there a lack user-friendly Sanger data analysis tools that can be run interactively as web application or large-scale in batch from command-line.We present Tracy, an efficient and versatile command-line enables basecalling, alignment, assembly deconvolution chromatogram files. Its companion applications make all functionality Tracy easily accessible using standard browser technologies interactive...