Demo Data from EDBT 2026 / reviewers in the wild / expert
Kyuto Sonehara
dblp:290/0410
· DBLP profile ↗
1ranked-venue papers
1as first author
1since 2021 · last 2021
—ORCID · unresolved
Domains — the database's venue-derived domains; a paper can count in several
Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 1 since 2021
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
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Bioinformatics and computational biology › statistical genetics
genetic linkage analysis |
0.5 | 1 | 2021 | Obelisc: an identical-by-descent mapping tool based on SNP streak · Bioinform. 2021 |
Bioinformatics and computational biology › statistical genetics › haplotype analysis
haplotype phasing |
0.1 | 1 | 2021 | Obelisc: an identical-by-descent mapping tool based on SNP streak · Bioinform. 2021 |
Bioinformatics and computational biology
population genetics |
0.1 | 1 | 2021 | Obelisc: an identical-by-descent mapping tool based on SNP streak · Bioinform. 2021 |
Methods — techniques the papers use, named apart from their topics
pedigree analysis · 0.5SNP streak · 0.5
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2021 | Obelisc: an identical-by-descent mapping tool based on SNP streakabstractMOTIVATION: Genetic linkage analysis has made a huge contribution to the genetic mapping of Mendelian diseases. However, most previously available linkage analysis methods have limited applicability. Since parametric linkage analysis requires predefined model of inheritance with a fixed set of parameters, it is inapplicable without fully structured pedigree information. Furthermore, the analytical results are dependent on the specification of model parameters. While non-parametric linkage analysis can avoid these problems, the runs of homozygosity (ROH) mapping, a widely used non-parametric linkage analysis method, can only deal with recessive inheritance. The implementation of non-parametric linkage analyses capable of dealing with both dominant and recessive inheritance has been required. RESULTS: We have developed the Obelisc (Observational linkage scan), a flexibly applicable user-friendly non-parametric linkage analysis tool, which also provides an intuitive visualization of the analytical results. Obelisc is based on the SNP streak approach, which does not require any predefined inheritance model with parameters. In contrast to the ROH mapping, the SNP streak approach is applicable to both dominant and recessive traits. To illustrate the performance of Obelisc, we generated a pseudo-pedigree from the publicly available BioBank Japan Project genome-wide genotype dataset (n > 180 000). By applying Obelisc to this pseudo-pedigree, we successfully identified the regions with inherited identical-by-descent haplotypes shared among the members of the pseudo-pedigree, which was validated by the population-based haplotype phasing approach. AVAILABILITY AND IMPLEMENTATION: Obelisc is feely available at https://github.com/qsonehara/Obelisc as a python package with example datasets. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Kyuto Sonehara, Yukinori Okada |
Bioinform. | 1 |