EDBT 2026 Demo / reviewers in the wild / expert
Thorsten Dickhaus
dblp:60/9381
· DBLP profile ↗
1ranked-venue papers
0as first author
0since 2021 · last 2015
0000-0003-3084-3036ORCID · 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 4 heaviest of 4, each with the papers that count most for it
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Bioinformatics and computational biology
case-control study |
0.2 | 1 | 2015 | Strategies to improve the performance of rare variant association studies by optimizing the selection of controls · Bioinform. 2015 |
Bioinformatics and computational biology
genomics |
0.2 | 1 | 2015 | Strategies to improve the performance of rare variant association studies by optimizing the selection of controls · Bioinform. 2015 |
Bioinformatics and computational biology › population genetics
population stratification correction |
0.2 | 1 | 2015 | Strategies to improve the performance of rare variant association studies by optimizing the selection of controls · Bioinform. 2015 |
Bioinformatics and computational biology › statistical genetics › rare variant analysis
rare variant association testing |
0.2 | 1 | 2015 | Strategies to improve the performance of rare variant association studies by optimizing the selection of controls · Bioinform. 2015 |
Methods — techniques the papers use, named apart from their topics
simulation · 0.2similarity-based matching · 0.2
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2015 | Strategies to improve the performance of rare variant association studies by optimizing the selection of controlsabstractMOTIVATION: When analyzing a case group of patients with ultra-rare disorders the ethnicities are often diverse and the data quality might vary. The population substructure in the case group as well as the heterogeneous data quality can cause substantial inflation of test statistics and result in spurious associations in case-control studies if not properly adjusted for. Existing techniques to correct for confounding effects were especially developed for common variants and are not applicable to rare variants. RESULTS: We analyzed strategies to select suitable controls for cases that are based on similarity metrics that vary in their weighting schemes. We simulated different disease entities on real exome data and show that a similarity-based selection scheme can help to reduce false positive associations and to optimize the performance of the statistical tests. Especially when data quality as well as ethnicities vary a lot in the case group, a matching approach that puts more weight on rare variants shows the best performance. We reanalyzed collections of unrelated patients with Kabuki make-up syndrome, Hyperphosphatasia with Mental Retardation syndrome and Catel-Manzke syndrome for which the disease genes were recently described. We show that rare variant association tests are more sensitive and specific in identifying the disease gene than intersection filters and should thus be considered as a favorable approach in analyzing even small patient cohorts. AVAILABILITY AND IMPLEMENTATION: Datasets used in our analysis are available at ftp://ftp.1000genomes.ebi.ac.uk./vol1/ftp/ CONTACT: : [email protected] SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Verena Heinrich, Thorsten Dickhaus, Jochen Hecht, Peter N. Robinson, Stefan Mundlos, Tom Kamphans, Peter M. Krawitz |
Bioinform. | 3 |