2 Search Results for "Hartmann, Till"

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DOI: 10.4230/TGDK.1.1.11
How Does Knowledge Evolve in Open Knowledge Graphs?

Authors: Axel Polleres, Romana Pernisch, Angela Bonifati, Daniele Dell'Aglio, Daniil Dobriy, Stefania Dumbrava, Lorena Etcheverry, Nicolas Ferranti, Katja Hose, Ernesto Jiménez-Ruiz, Matteo Lissandrini, Ansgar Scherp, Riccardo Tommasini, and Johannes Wachs

Published in: TGDK, Volume 1, Issue 1 (2023): Special Issue on Trends in Graph Data and Knowledge. Transactions on Graph Data and Knowledge, Volume 1, Issue 1

Abstract
Openly available, collaboratively edited Knowledge Graphs (KGs) are key platforms for the collective management of evolving knowledge. The present work aims t o provide an analysis of the obstacles related to investigating and processing specifically this central aspect of evolution in KGs. To this end, we discuss (i) the dimensions of evolution in KGs, (ii) the observability of evolution in existing, open, collaboratively constructed Knowledge Graphs over time, and (iii) possible metrics to analyse this evolution. We provide an overview of relevant state-of-the-art research, ranging from metrics developed for Knowledge Graphs specifically to potential methods from related fields such as network science. Additionally, we discuss technical approaches - and their current limitations - related to storing, analysing and processing large and evolving KGs in terms of handling typical KG downstream tasks.
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Axel Polleres, Romana Pernisch, Angela Bonifati, Daniele Dell'Aglio, Daniil Dobriy, Stefania Dumbrava, Lorena Etcheverry, Nicolas Ferranti, Katja Hose, Ernesto Jiménez-Ruiz, Matteo Lissandrini, Ansgar Scherp, Riccardo Tommasini, and Johannes Wachs. How Does Knowledge Evolve in Open Knowledge Graphs?. In Special Issue on Trends in Graph Data and Knowledge. Transactions on Graph Data and Knowledge (TGDK), Volume 1, Issue 1, pp. 11:1-11:59, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2023)

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@Article{polleres_et_al:TGDK.1.1.11,
  author =	{Polleres, Axel and Pernisch, Romana and Bonifati, Angela and Dell'Aglio, Daniele and Dobriy, Daniil and Dumbrava, Stefania and Etcheverry, Lorena and Ferranti, Nicolas and Hose, Katja and Jim\'{e}nez-Ruiz, Ernesto and Lissandrini, Matteo and Scherp, Ansgar and Tommasini, Riccardo and Wachs, Johannes},
  title =	{{How Does Knowledge Evolve in Open Knowledge Graphs?}},
  journal =	{Transactions on Graph Data and Knowledge},
  pages =	{11:1--11:59},
  year =	{2023},
  volume =	{1},
  number =	{1},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/TGDK.1.1.11},
  URN =		{urn:nbn:de:0030-drops-194855},
  doi =		{10.4230/TGDK.1.1.11},
  annote =	{Keywords: KG evolution, temporal KG, versioned KG, dynamic KG}
}
Document
DOI: 10.4230/LIPIcs.WABI.2018.13
Spalter: A Meta Machine Learning Approach to Distinguish True DNA Variants from Sequencing Artefacts

Authors: Till Hartmann and Sven Rahmann

Published in: LIPIcs, Volume 113, 18th International Workshop on Algorithms in Bioinformatics (WABI 2018)

Abstract
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 variant, to help users make an informed choice about which variants to accept or discard. Having several such quality indicators poses a problem for the users of variant callers because they need to set or adjust thresholds for each such indicator. Alternatively, machine learning methods can be used to train a classifier based on these indicators. This approach needs large sets of labeled training data, which is not easily available. The new approach presented here relies on the idea that a true DNA variant exists independently of technical features of the read in which it appears (e.g. base quality, strand, position in the read). Therefore the nucleotide separability classification problem - predicting the nucleotide state of each read in a given pileup based on technical features only - should be near impossible to solve for true variants. Nucleotide separability, i.e. achievable classification accuracy, can either be used to distinguish between true variants and technical artefacts directly, using a thresholding approach, or it can be used as a meta-feature to train a separability-based classifier. This article explores both possibilities with promising results, showing accuracies around 90%.
Cite as

Till Hartmann and Sven Rahmann. Spalter: A Meta Machine Learning Approach to Distinguish True DNA Variants from Sequencing Artefacts. In 18th International Workshop on Algorithms in Bioinformatics (WABI 2018). Leibniz International Proceedings in Informatics (LIPIcs), Volume 113, pp. 13:1-13:8, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2018)

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@InProceedings{hartmann_et_al:LIPIcs.WABI.2018.13,
  author =	{Hartmann, Till and Rahmann, Sven},
  title =	{{Spalter: A Meta Machine Learning Approach to Distinguish True DNA Variants from Sequencing Artefacts}},
  booktitle =	{18th International Workshop on Algorithms in Bioinformatics (WABI 2018)},
  pages =	{13:1--13:8},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-082-8},
  ISSN =	{1868-8969},
  year =	{2018},
  volume =	{113},
  editor =	{Parida, Laxmi and Ukkonen, Esko},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2018.13},
  URN =		{urn:nbn:de:0030-drops-93158},
  doi =		{10.4230/LIPIcs.WABI.2018.13},
  annote =	{Keywords: variant calling, sequencing error, technical artefact, meta machine learning, classification}
}
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