Demo Data from EDBT 2026 / reviewers in the wild / expert
Jessica I Murphy
dblp:437/1727
· DBLP profile ↗
1ranked-venue papers
1as first author
1since 2021 · last 2026
0000-0001-8400-7485ORCID · reported
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 4 heaviest of 4, each with the papers that count most for it
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Bioinformatics and computational biology › statistical genetics
genetic data simulation |
1.0 | 1 | 2026 | RAREsim2: flexible simulation of rare variant genetic data using real haplotypes · Bioinform. 2026 |
Bioinformatics and computational biology › genomics
genome-wide association study |
1.0 | 1 | 2026 | RAREsim2: flexible simulation of rare variant genetic data using real haplotypes · Bioinform. 2026 |
Bioinformatics and computational biology
genomics |
1.0 | 1 | 2026 | RAREsim2: flexible simulation of rare variant genetic data using real haplotypes · Bioinform. 2026 |
Bioinformatics and computational biology › statistical genetics › rare variant analysis
rare variant association testing |
1.0 | 1 | 2026 | RAREsim2: flexible simulation of rare variant genetic data using real haplotypes · Bioinform. 2026 |
Methods — techniques the papers use, named apart from their topics
haplotype-based simulation · 1.0burden test · 1.0SKAT-O · 1.0SKAT · 1.0
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2026 | RAREsim2: flexible simulation of rare variant genetic data using real haplotypesabstractMOTIVATION: Realistic simulated data is critical for advancing methodological development and optimizing study design in genetics research. However, many genetic simulation tools are unable to replicate the distribution of rare variants or incorporate key genetic information, such as functional annotations and linkage disequilibrium. RAREsim, an accurate rare variant simulation algorithm that uses real genetic haplotypes, was developed to address these limitations. Here, we introduce RAREsim2, an update that provides both streamlined software and new functionalities for simulating individual-level differences (e.g., case-control status, technological or batch effects) and variant-level differences to represent a variety of causal models. RESULTS: We demonstrate RAREsim2's utility with three rare variant association methods (Burden, SKAT, and SKAT-O) across several simulation scenarios, including various genetic ancestries, gene sizes, strengths of association, and proportions of risk variants. Type I Error was maintained and the test with the highest power matched previously known patterns. Importantly, real genetic regions can be simulated to include known variant functions and disease associations. Ultimately, RAREsim2 offers additional flexibility and ease in simulating a multitude of realistic genetic scenarios. AVAILABILITY AND IMPLEMENTATION: The RAREsim2 Python package is publicly available on Github (https://github.com/Hendricks-Research-Team/RAREsim2), PyPI (https://pypi.org/project/raresim/), and Zenodo (https://doi.org/10.5281/zenodo.19442523). Code for the example demonstration can be found at https://github.com/JessMurphy/RAREsim2-demo. Jessica I Murphy, Ryan Barnard, Megan Null, Audrey E. Hendricks |
Bioinform. | 1 |