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13 changes: 0 additions & 13 deletions .gitignore

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674 changes: 674 additions & 0 deletions LICENSE

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15 changes: 12 additions & 3 deletions README.md
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# StarBASE
# StarBASE-GP

<div align="center">
<img src="./docs/StarBASE_logo_small.png" alt="Logo">
<img src="./docs/starbase-gp-logo.png" alt="Logo" width="540" height="540">
</div>

StarBASE : Star-Based Automated Single-locus and Epistasis analysis pipeline - Genetic Programming
StarBASE-GP : Star-Based Automated Single-locus and Epistasis analysis tool - Genetic Programming
==================================

## Abstract

> We present the Star-Based Automated Single-locus and Epistasis analysis tool – Genetic Programming (StarBASE-GP), an automated framework for discovering meaningful genetic variants associated with phenotypic variation in large-scale genomic datasets.
StarBASE-GP uses a genetic programming–based multi-objective optimization strategy to evolve machine learning pipelines that simultaneously maximize explanatory power ($r^2$) and minimize pipeline complexity.
Biological domain knowledge is integrated at multiple stages, including the use of nine inheritance encoding strategies to model deviations from additivity, a custom linkage disequilibrium pruning node that minimizes redundancy among features, and a dynamic variant recommendation system that prioritizes informative candidates for pipeline inclusion.
We evaluate StarBASE-GP on a cohort of \textit{Rattus norvegicus} (brown rat) to identify variants associated with body mass index, benchmarking its performance against a random baseline and a biologically naïve version of the tool.
StarBASE-GP consistently evolves Pareto fronts with superior performance, yielding higher accuracy in identifying both ground truth and novel quantitative trait loci, highlighting relevant targets for future validation.
By incorporating evolutionary search and relevant biological theory into a flexible automated machine learning framework, StarBASE-GP demonstrates robust potential for advancing variant discovery in complex traits.
11 changes: 7 additions & 4 deletions Source/evolver.py
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Expand Up @@ -1055,10 +1055,14 @@ def plot_pareto_front(self, pop: List[Pipeline]) -> None:
plt.clf()

# check if ground truth is found in the Pareto front
def check_ground_truth(self) -> bool:
def check_ground_truth(self) -> None:
# get the pareto front from the population
_, rank = nsga.non_dominated_sorting(obj_scores=self.get_pipeline_scores(self.population, weights=(r2_t(1.0), feature_cnt_t(-1))))
pareto_front = self.population[rank == 0]
pareto_front = []
# get rank == 0 pipelines
for i, r in enumerate(rank):
if r == 0:
pareto_front.append(self.population[i])

# get snps from the pareto front that are not prunned
good_snps = set()
Expand All @@ -1073,8 +1077,7 @@ def check_ground_truth(self) -> bool:
chrom, pos = self.snp_chrm_pos(snp)
if true_chrom == chrom and np.abs(true_pos - pos) <= self.truth_distance:
print('Found ground truth SNP:', true_snp, flush=True)

return


# helper to generate chromosome number and snp position
def snp_chrm_pos(self, snp: snp_t) -> Tuple[gen_chrom_num_t, gen_chrom_pos_t]:
Expand Down
284 changes: 106 additions & 178 deletions Source/scikit_node.py

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