Sascha Meiers
A5047235319- Genomics and Phylogenetic Studies
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Glycosylation and Glycoproteins Research
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- RNA and protein synthesis mechanisms
- Genetics, Bioinformatics, and Biomedical Research
- Gene expression and cancer classification
- Single-cell and spatial transcriptomics
- Zoonotic diseases and public health
- Genomics and Chromatin Dynamics
- Machine Learning in Bioinformatics
- Digestive system and related health
- RNA Research and Splicing
- DNA and Biological Computing
- Algorithms and Data Compression
European Molecular Biology Laboratory
2015-2019
European Molecular Biology Laboratory
2015-2019
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...
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...
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...
ABSTRACT 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 parent–child 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...
Current sequencing technologies are able to produce reads orders of magnitude longer than ever possible before. Such long have sparked a new interest in de novo genome assembly, which removes reference biases inherent re-sequencing approaches and allows for direct characterization complex genomic variants. However, even with latest algorithmic advances, assembling mammalian from error-prone incurs significant computational burden does not preclude occasional misassemblies. Both problems...
While active LINE-1 (L1) elements possess the ability to mobilize flanking sequences different genomic loci through a process termed transduction influencing content and structure, an approach for detecting polymorphic germline non-reference transductions in massively-parallel sequencing data has been lacking. Here we present computational TIGER (Transduction Inference GERmline genomes), enabling discovery of L1-mediated by combining L1 with detection unique insertion detailed...
Abstract Structural variation (SV), where rearrangements delete, duplicate, invert or translocate DNA segments, is a major source of somatic cell variation. It can arise in rapid bursts, mediate genetic heterogenity, and dysregulate cancer-related pathways. The challenge to systematically discover SVs single cells remains unsolved, with copy-neutral complex variants typically escaping detection. We developed tri-channel-processing (scTRIP), computational framework that jointly integrates...
On 30 November 2016, over 70 junior researchers in computational biology from diverse countries met Mainz, Germany, for the 1st Student Symposium on Computational Genomics. Overall, symposium was a great success and featured four outstanding keynote lectures, nine selected student talks, 38 poster presentations. This report briefly highlights scientific outcomes activities of this student-driven event.