Tobias Rausch

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

The paper develops a hierarchical classification framework combining epigenetic and genetic data with machine learning to improve diagnosis and risk stratification in hematologic malignancies.

HOROSCOPE uses k-mer signatures to infer centromere architecture and length from short-read data, revealing continental structure and cancer-related rearrangements.

The paper identifies genomic and transcriptomic features of telomere maintenance mechanisms in complex karyotype sarcomas, linking ALT status to therapeutic vulnerabilities.

The paper introduces MAGIC, a platform combining imaging and genomics to study de novo chromosome rearrangements, finding that dicentric chromosomes initiate CA events and TP53 deficiency increases CA rates.

This study integrates spatial and multi-omic data from bladder cancer patients to show L1 retrotransposition drives genomic instability, ecDNA formation, and a viral mimicry response.

The paper uses long-read sequencing to characterize structural variants in 1,019 samples from the 1000 Genomes Project, identifying 167,291 sequence-resolved SVs and highlighting their genomic and functional implications.

Hybrid HiFi/ultra-long ONT assemblies of 65 diverse humans yield 130 haplotypes, 1,246 complete centromeres, and a pangenome panel enabling short-read genome inference at median QV 45.

The paper identifies CFHR5 variants that reduce AMD risk by lowering FHR-5 levels and altering complement pathway activity.

This study identifies treatment-resistant stem-like T-ALL cells that expand during relapse using single-cell RNA sequencing of pediatric T-ALL patient samples.

The paper identifies a conserved, disordered domain in SYP-4 that regulates crossover assurance and interference in meiosis by recruiting an E3 ligase.

The paper introduces NAHRwhals, a method to detect serial structural variations in long-read genomes, identifies 37 sSV loci in humans, and shows their relevance to disease.

This study identifies cell type-specific molecular consequences of mosaic structural variants in hematopoietic stem and progenitor cells across aging.

SVarp discovers haplotype-resolved structural variants using a pangenome reference and long reads, achieving high recall in simulated and real data.

The paper presents a high coverage whole genome sequencing resource of 3,202 samples, including 602 trios, generated from the expanded 1000 Genomes Project.

PanGenie improves variant calling by using a pangenome reference and k-mer counts, achieving higher accuracy and speed compared to traditional methods.

This paper introduces scNOVA, a method to analyze somatic structural variants in single-cell multiomics data, revealing their functional impacts on gene regulation and cancer pathways.

Mako detects complex structural variants using a graph-based pattern growth approach, achieving 70% validation rate on real data and identifying 15 CSV types including two novel ones.

The paper presents 64 haplotype-resolved human genomes using long-read sequencing and identifies structural variants, SV-eQTLs, and adaptive selection candidates.

This paper introduces scTRIP, a method to detect structural variations in single cells, revealing new SV classes and mutational processes in cancer samples.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.