Demo Data from EDBT 2026 / reviewers in the wild / expert
Haruki Kume
dblp:154/3773
· DBLP profile ↗
1ranked-venue papers
0as first author
0since 2021 · last 2014
—ORCID · unresolved
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
cancer genomics |
0.2 | 1 | 2014 | HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations · Bioinform. 2014 |
Bioinformatics and computational biology › genomics › variant calling
low-frequency variant detection |
0.2 | 1 | 2014 | HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations · Bioinform. 2014 |
Bioinformatics and computational biology › cancer genomics › somatic mutation analysis
somatic mutation detection |
0.2 | 1 | 2014 | HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations · Bioinform. 2014 |
Bioinformatics and computational biology › statistical genetics › haplotype analysis
haplotype phasing |
0.1 | 1 | 2014 | HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations · Bioinform. 2014 |
Methods — techniques the papers use, named apart from their topics
variational bayes · 0.2generative model · 0.2bayesian hierarchical model · 0.2
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2014 | HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutationsabstractMOTIVATION: Identifying somatic changes from tumor and matched normal sequences has become a standard approach in cancer research. More specifically, this requires accurate detection of somatic point mutations with low allele frequencies in impure and heterogeneous cancer samples. Although haplotype phasing information derived by using heterozygous germ line variants near candidate mutations would improve accuracy, no somatic mutation caller that uses such information is currently available. RESULTS: We propose a Bayesian hierarchical method, termed HapMuC, in which power is increased by using available information on heterozygous germ line variants located near candidate mutations. We first constructed two generative models (the mutation model and the error model). In the generative models, we prepared candidate haplotypes, considering a heterozygous germ line variant if available, and the observed reads were realigned to the haplotypes. We then inferred the haplotype frequencies and computed the marginal likelihoods using a variational Bayesian algorithm. Finally, we derived a Bayes factor for evaluating the possibility of the existence of somatic mutations. We also demonstrated that our algorithm has superior specificity and sensitivity compared with existing methods, as determined based on a simulation, the TCGA Mutation Calling Benchmark 4 datasets and data from the COLO-829 cell line. AVAILABILITY AND IMPLEMENTATION: The HapMuC source code is available from http://github.com/usuyama/hapmuc. Naoto Usuyama, Yuichi Shiraishi, Yusuke Sato, Haruki Kume, Yukio Homma, Seishi Ogawa, Satoru Miyano, Seiya Imoto |
Bioinform. | 4 |