EDBT 2026 Demo / reviewers in the wild / expert
Daniel Brey
dblp:424/4555
· DBLP profile ↗
1ranked-venue papers
0as first author
1since 2021 · last 2024
—ORCID · none
Domains — the database's venue-derived domains; a paper can count in several
Applied, interdisciplinary, general and emerging computing · 1 · 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 › genomics
computational genomics |
0.8 | 1 | 2024 | NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data · Bioinform. 2024 |
Bioinformatics and computational biology › genomics › structural variation
structural variant analysis |
0.8 | 1 | 2024 | NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data · Bioinform. 2024 |
Bioinformatics and computational biology › genomics › structural variation
structural variant genotyping |
0.8 | 1 | 2024 | NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data · Bioinform. 2024 |
Methods — techniques the papers use, named apart from their topics
pileup image simulation · 0.8image similarity · 0.8deep learning · 0.8
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2024 | NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing dataabstractMOTIVATION: Structural variants (SVs) play a causal role in numerous diseases but can be difficult to detect and accurately genotype (determine zygosity) with short-read genome sequencing data (SRS). Improving SV genotyping accuracy in SRS data, particularly for the many SVs first detected with long-read sequencing, will improve our understanding of genetic variation. RESULTS: NPSV-deep is a deep learning-based approach for genotyping previously reported insertion and deletion SVs that recasts this task as an image similarity problem. NPSV-deep predicts the SV genotype based on the similarity between pileup images generated from the actual SRS data and matching SRS simulations. We show that NPSV-deep consistently matches or improves upon the state-of-the-art for SV genotyping accuracy across different SV call sets, samples and variant types, including a 25% reduction in genotyping errors for the Genome-in-a-Bottle (GIAB) high-confidence SVs. NPSV-deep is not limited to the SVs as described; it improves deletion genotyping concordance a further 1.5 percentage points for GIAB SVs (92%) by automatically correcting imprecise/incorrectly described SVs. AVAILABILITY AND IMPLEMENTATION: Python/C++ source code and pre-trained models freely available at https://github.com/mlinderm/npsv2. Michael D. Linderman, Jacob Wallace, Alderik van der Heyde, Eliza Wieman, Daniel Brey, Yiran Shi, Zahra Shamsi, Jeremiah Liu, Bruce D. Gelb, Ali Bashir |
Bioinform. | 5 |