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Article

RAREsim2: flexible simulation of rare variant genetic data using real haplotypes.

Bioinformatics (Oxford, England) - 3 May 2026

Murphy Jessica I, Barnard Ryan, Null Megan, Hendricks Audrey E

Abstract excerpt

MOTIVATION: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 42085453
DOI: 10.1093/bioinformatics/btag241
PMCID: PMC13189852

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