Demo Data from EDBT 2026 / reviewers in the wild / expert
Ryan J. Corbett
dblp:424/4645
· 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 · 67% Medical and health informatics · 33% |
Topics — the 3 heaviest of 3, each with the papers that count most for it
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Medical and health informatics
clinical genomics |
0.8 | 1 | 2024 | AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification · Bioinform. 2024 |
Bioinformatics and computational biology › genome annotation
genomic variant annotation |
0.8 | 1 | 2024 | AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification · Bioinform. 2024 |
Bioinformatics and computational biology › statistical genetics › variant effect prediction
variant pathogenicity prediction |
0.8 | 1 | 2024 | AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification · Bioinform. 2024 |
Methods — techniques the papers use, named apart from their topics
intervar · 0.8clinvar integration · 0.8ACMG-AMP criteria · 0.8
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2024 | AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classificationabstractSUMMARY: With the increasing rates of exome and whole genome sequencing, the ability to classify large sets of germline sequencing variants using up-to-date American College of Medical Genetics-Association for Molecular Pathology (ACMG-AMP) criteria is crucial. Here, we present Automated Germline Variant Pathogenicity (AutoGVP), a tool that integrates germline variant pathogenicity annotations from ClinVar and sequence variant classifications from a modified version of InterVar (PVS1 strength adjustments, removal of PP5/BP6). This tool facilitates large-scale, clinically focused classification of germline sequence variants in a research setting. AVAILABILITY AND IMPLEMENTATION: AutoGVP is an open source dockerized workflow implemented in R and freely available on GitHub at https://github.com/diskin-lab-chop/AutoGVP. Jung Kim, Ammar S. Naqvi, Ryan J. Corbett, Rebecca S. Kaufman, Zalman Vaksman, Miguel A. Brown, Daniel P. Miller, Saksham Phul, Zhuangzhuang Geng, Phillip B. Storm, Adam C. Resnick, Douglas R. Stewart, Jo Lynne Rokita, Sharon J. Diskin |
Bioinform. | 3 |