Accès ouvert
2025
preprint
OpenAlex
Vinzenz May, Till Hartmann, Dieter Beule, Manuel Holtgrewe
Abstract Motivation Long-Read Sequencing (LRS), and Oxford Nanopore Technologies (ONT) in particular, has greatly improved the detection of structural genome variants (SVs). Fast alignment-based ONT callers achieve strong benchmark performance, but they necessarily reduce the read sequence to alignment-derived signals when deciding …
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Accès ouvert
2024
erratum
OpenAlex
Tatsiana Ryl, Elena Afanasyeva, Till Hartmann, Melanie Schwermer et autres
In this article, the author name Hanenberg was incorrectly written as Hannenberg. The original article has been corrected.
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Accès ouvert
2024
article
OpenAlex
Tatsiana Ryl, Elena Afanasyeva, Till Hartmann, Melanie Schwermer et autres
Retinoblastoma are childhood eye tumors arising from retinal precursor cells. Two distinct retinoblastoma subtypes with different clinical behavior have been described based on gene expression and methylation profiling. Using consensus clustering of DNA methylation analysis from 61 retinoblastomas, we identify a MYCN-driven …
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Accès ouvert
2022
article
OpenAlex
Till Hartmann, Christopher Schröder, Elias Kuthe, David Lähnemann et autres
SUMMARY: We present vembrane as a command line variant call format (VCF)/binary call format (BCF) filtering tool that consolidates and extends the filtering functionality of previous software to meet any imaginable filtering use case. Vembrane exposes the VCF/BCF file type specification and …
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Accès ouvert
2022
preprint
OpenAlex
Till Hartmann, Christopher Schröder, Elias Kuthe, David Lähnemann et autres
Summary Data from sequencing of DNA or RNA samples is routinely scanned for variation. Such variation data is stored in the standardized VCF/BCF format with additional annotations. Analyses of variants usually involve steps where filters are applied to narrow down the list …
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Accès ouvert
2022
article
OpenAlex
Alicia I. Tüns, Till Hartmann, Simon Magin, Rocío Chamorro González et autres
Occurrence of extra-chromosomal circular DNA is a phenomenon frequently observed in tumor cells, and the presence of such DNA has been recognized as a marker of adverse outcome across cancer types. We here describe a computational workflow for identification of DNA circles …
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Accès ouvert
2018
article
OpenAlex
Till Hartmann, Sven Rahmann
Being able to distinguish between true DNA variants and technical sequencing artefacts is a fundamental task in whole genome, exome or targeted gene analysis. Variant calling tools provide diagnostic parameters, such as strand bias or an aggregated overall quality for each called …
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