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Olaf Riess

dblp:92/11400 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2013
0000-0002-7011-1369ORCID · reported

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 3 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics
genome analysis
0.212013
UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays · Bioinform. 2013
Bioinformatics and computational biology › statistical genetics › association testing
parent-child trio analysis
0.212013
UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays · Bioinform. 2013
Bioinformatics and computational biology › statistical genetics
single nucleotide polymorphism analysis
0.212013
UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays · Bioinform. 2013

Methods — techniques the papers use, named apart from their topics

SNP microarray analysis · 0.2
YearPublicationVenuePosition
2013 UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays
abstract
UNLABELLED: UPDtool is a computational tool for detection and classification of uniparental disomy (UPD) in trio SNP-microarray experiments. UPDs are rare events of chromosomal malsegregation and describe the condition of two homologous chromosomes or homologous chromosomal segments that were inherited from one parent. The occurrence of UPD can be of major clinical relevance. Though high-throughput molecular screening techniques are widely used, detection of UPDs and especially the subclassification remains complex. We developed UPDtool to detect and classify UPDs from SNP microarray data of parent-child trios. The algorithm was tested using five positive controls including both iso- and heterodisomic segmental UPDs and 30 trios from the HapMap project as negative controls. With UPDtool, we were able to correctly identify all occurrences of non-mosaic UPD within our positive controls, whereas no occurrence of UPD was found within our negative controls. In addition, the chromosomal breakage points could be determined more precisely than by microsatellite analysis. Our results were compared with both the gold standard, microsatellite analysis and SNPtrio, another program available for UPD detection. UPDtool is platform independent, light weight and flexible. Because of its simple input format, UPDtool may also be used with other high-throughput technologies (e.g., next-generation sequencing). AVAILABILITY AND IMPLEMENTATION: UPDtool executables, documentation and examples can be downloaded from http://www.uni-tuebingen.de/uni/thk/de/f-genomik-software.html.
Christopher M. Schroeder, Marc Sturm, Andreas Dufke, Ulrike Mau-Holzmann, Thomas Eggermann, Sven Poths, Olaf Riess, Michael Bonin
Bioinform.7