Author: Tobias Marschall

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Preprints

Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

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Accurate chromosome-scale haplotype-resolved assembly of human genomes

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Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

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Multi-platform discovery of haplotype-resolved structural variation in human genomes

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Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit

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WhatsHap: fast and accurate read-based phasing

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A robust benchmark for germline structural variant detection

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Computational Pan-Genomics: Status, Promises and Challenges

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Haplotype-aware genotyping from noisy long reads

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Mapping And Phasing Of Structural Variation In Patient Genomes Using Nanopore Sequencing

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A fully phased accurate assembly of an individual human genome

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GraphAligner: Rapid and Versatile Sequence-to-Graph Alignment

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A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population

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Detecting Horizontal Gene Transfer by Mapping Sequencing Reads Across Species Boundaries

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Dense And Accurate Whole-Chromosome Haplotyping Of Individual Genomes

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Bit-parallel sequence-to-graph alignment

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Aligning sequences to general graphs in O(V + mE) time

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Haplotype Threading: Accurate Polyploid Phasing from Long Reads

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Read-Based Phasing of Related Individuals

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A Diploid Assembly-based Benchmark for Variants in the Major Histocompatibility Complex

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AERON: Transcript quantification and gene-fusion detection using long reads

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Enhancing sensitivity and controlling false discovery rate in somatic indel discovery

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Genotyping of Inversions and Tandem Duplications

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Selecting Reads for Haplotype Assembly

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Single cell tri-channel-processing reveals structural variation landscapes and complex rearrangement processes

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Enhancing Sensitivity And Controlling False Discovery Rate In Somatic Indel Discovery Using A Latent Variable Model

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Fully-sensitive Seed Finding in Sequence Graphs Using a Hybrid Index

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