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Predicting progression of Alzheimer's disease using blood-based multi-omics data.

Code ↔ Paper

9 matches between paragraphs of the paper and lines of its authors' code, computed by the harvester (lexical-v1). Click a colored paragraph or line to see its counterpart.

The 9 matches
  1. [1] § Methods › DNA methylation data pre-processing ↔ methylation_minfi.R, lines 42 to 92 · score 0.95 · getBeta, preprocessQuantile, read.metharray.exp, rgSet, probes failing, quantile normalization · Report a mismatch
  2. [2] § Methods › DNA methylation data pre-processing ↔ feature_selection_gene_cpg.py, lines 1 to 41 · score 0.76 · Log2 fold change, log2fc, pMCI, sMCI, CpG, Methylation · Report a mismatch
  3. [3] § Methods › Lipid data pre-processing ↔ feature_selection_type.py, lines 4 to 11 · score 0.71 · SelectBySingleFeaturePerformance, SelectFromModel, Feature selection, RFE · Report a mismatch
  4. [4] § Results › Model performance across integration strategies ↔ Early_Late_integration.py, lines 114 to 171 · score 0.64 · L1 regularized logistic, neural network, random forest, metrics, NN, regression · Report a mismatch
  5. [5] § Methods › Model training and feature importance analysis ↔ feature_selection_gene_cpg.py, lines 1 to 41 · score 0.58 · pMCI, sMCI, Python, CpG, binary, selections · Report a mismatch
  6. [6] § Results › Model performance across integration strategies ↔ Early_Late_integration.py, lines 1 to 43 · score 0.58 · single model, XGBoost, concatenated, NN, SVM, RF · Report a mismatch
  7. [7] § Methods › Lipid data pre-processing ↔ feature_selection_gene_cpg.py, lines 108 to 161 · score 0.55 · Feature selection, Mutual Information, MI, filtered, zero · Report a mismatch
  8. [8] § Results › Model performance across integration strategies ↔ Early_Late_integration.py, lines 1 to 43 · score 0.54 · Neural network, XGBoost, SVM, RF, classifier, L1 · Report a mismatch
  9. [9] § Methods › Gene expression data pre-processing ↔ feature_selection_gene_cpg.py, lines 61 to 72 · score 0.53 · avoid division, log2FC, zero, gene · Report a mismatch

Paper

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The authors' code

Python · 165 lines · 6.1 KB · CC-BY-NC-4.0 · 4 matches

  1. #!/usr/bin/env python3
  2. """Gene / CpG feature-selection (public repo version).
  3. This script keeps a runnable example for GitHub using the bundled toy dataset,
  4. while preserving the key paper-style step of selecting features by effect size:
  5. selected_* = log2fc[abs(log2fc) >= 0.25]
  6. Behavior
  7. - Loads a CSV with a binary `Phenotype` column.
  8. - Detects gene expression columns by suffix `_gene` and CpG methylation columns
  9. by suffix `_cpg` (if present).
  10. - For each feature set (genes / CpGs), computes class-wise means and log2 fold
  11. change (pMCI vs sMCI), then filters by |log2FC| >= threshold (default 0.25).
  12. - Ranks the filtered features with mutual information and writes top-N lists.
  13. - Always writes an overall ranking as a fallback.
  14. Notes
  15. - Toy data may not contain `_cpg` columns; the CpG branch will be skipped.
  16. - For methylation beta values, log2FC is a simple effect-size proxy; you may
  17. prefer mean difference instead. This implementation keeps the original step
  18. you requested for parity.
  19. Usage
  20. python code/feature_selection/feature_selection_gene_cpg.py \
  21. --csv data/toy/toy_complete_data.csv \
  22. --out out/feature_selection \
  23. --top 50 \
  24. --log2fc-thresh 0.25
  25. """
  26. from __future__ import annotations
  27. import argparse
  28. from pathlib import Path
  29. import numpy as np
  30. import pandas as pd
  31. from sklearn.feature_selection import mutual_info_classif
  32. LABEL_COL = "Phenotype"
  33. def load_xy(csv_path: Path) -> tuple[pd.DataFrame, np.ndarray]:
  34. df = pd.read_csv(csv_path)
  35. if LABEL_COL not in df.columns:
  36. raise ValueError(f"Expected a '{LABEL_COL}' column.")
  37. y_raw = df[LABEL_COL].astype(int)
  38. uniq = sorted(y_raw.unique().tolist())
  39. if uniq == [1, 2]:
  40. # sMCI=1, pMCI=2 -> 0/1
  41. y = (y_raw - 1).astype(int).to_numpy()
  42. elif len(uniq) == 2:
  43. y = y_raw.map({uniq[0]: 0, uniq[1]: 1}).astype(int).to_numpy()
  44. else:
  45. raise ValueError(f"Expected binary labels, got: {uniq}")
  46. X = df.drop(columns=[LABEL_COL])
  47. return X, y
  48. def compute_log2fc(X: pd.DataFrame, y: np.ndarray, eps: float = 1e-9) -> pd.Series:
  49. """Compute log2 fold change of feature means: class1 / class0.
  50. log2FC = log2( mean(y=1) / mean(y=0) )
  51. eps avoids division by zero.
  52. """
  53. X0 = X.loc[y == 0]
  54. X1 = X.loc[y == 1]
  55. m0 = X0.mean(axis=0)
  56. m1 = X1.mean(axis=0)
  57. log2fc = np.log2((m1 + eps) / (m0 + eps))
  58. return pd.Series(log2fc, index=X.columns, name="log2fc")
  59. def rank_and_save(
  60. X: pd.DataFrame,
  61. y: np.ndarray,
  62. out_csv: Path,
  63. top: int,
  64. seed: int = 42,
  65. ) -> pd.DataFrame:
  66. if X.shape[1] == 0:
  67. raise ValueError("No features to rank (empty feature matrix).")
  68. mi = mutual_info_classif(X.to_numpy(), y, random_state=seed)
  69. res = (
  70. pd.DataFrame({"feature": X.columns, "score": mi})
  71. .sort_values("score", ascending=False)
  72. .head(top)
  73. )
  74. out_csv.parent.mkdir(parents=True, exist_ok=True)
  75. res.to_csv(out_csv, index=False)
  76. return res
  77. def log2fc_filter(
  78. X: pd.DataFrame,
  79. y: np.ndarray,
  80. thresh: float,
  81. eps: float = 1e-9,
  82. ) -> tuple[pd.DataFrame, pd.Series]:
  83. """Filter features by absolute log2FC threshold."""
  84. log2fc = compute_log2fc(X, y, eps=eps)
  85. selected = log2fc[log2fc.abs() >= thresh] # <-- requested key step
  86. X_sel = X[selected.index]
  87. return X_sel, log2fc
  88. def main() -> None:
  89. ap = argparse.ArgumentParser()
  90. ap.add_argument("--csv", type=str, default=None, help="CSV path (default: toy dataset)")
  91. ap.add_argument("--out", type=str, default=None, help="Output dir (default: repo_root/out/feature_selection)")
  92. ap.add_argument("--top", type=int, default=50, help="Top N features to write per ranking")
  93. ap.add_argument("--seed", type=int, default=42, help="Random seed for MI")
  94. ap.add_argument("--log2fc-thresh", type=float, default=0.25, help="Abs(log2FC) threshold")
  95. ap.add_argument("--eps", type=float, default=1e-9, help="Small constant to avoid division by zero")
  96. args = ap.parse_args()
  97. here = Path(__file__).resolve()
  98. repo_root = here.parents[2]
  99. csv_path = Path(args.csv).expanduser().resolve() if args.csv else (repo_root / "data" / "toy" / "toy_complete_data.csv")
  100. out_dir = Path(args.out).expanduser().resolve() if args.out else (repo_root / "out" / "feature_selection")
  101. out_dir.mkdir(parents=True, exist_ok=True)
  102. X, y = load_xy(csv_path)
  103. gene_cols = [c for c in X.columns if c.endswith("_gene")]
  104. cpg_cols = [c for c in X.columns if c.endswith("_cpg")]
  105. # Genes
  106. if gene_cols:
  107. Xg = X[gene_cols].apply(pd.to_numeric, errors="coerce").fillna(0.0)
  108. Xg_sel, log2fc_g = log2fc_filter(Xg, y, thresh=args.log2fc_thresh, eps=args.eps)
  109. # Save full log2FC table + selected list
  110. log2fc_g.to_csv(out_dir / "gene_log2fc.csv", header=True)
  111. log2fc_g[log2fc_g.abs() >= args.log2fc_thresh].to_csv(out_dir / "gene_selected_by_log2fc.csv", header=True)
  112. if Xg_sel.shape[1] > 0:
  113. rank_and_save(Xg_sel, y, out_dir / "gene_selected_log2fc_then_mi_top.csv", top=args.top, seed=args.seed)
  114. else:
  115. # If threshold selects nothing, still provide MI ranking for all genes
  116. rank_and_save(Xg, y, out_dir / "gene_mutual_information_top.csv", top=args.top, seed=args.seed)
  117. # CpGs
  118. if cpg_cols:
  119. Xc = X[cpg_cols].apply(pd.to_numeric, errors="coerce").fillna(0.0)
  120. Xc_sel, log2fc_c = log2fc_filter(Xc, y, thresh=args.log2fc_thresh, eps=args.eps)
  121. log2fc_c.to_csv(out_dir / "cpg_log2fc.csv", header=True)
  122. log2fc_c[log2fc_c.abs() >= args.log2fc_thresh].to_csv(out_dir / "cpg_selected_by_log2fc.csv", header=True)
  123. if Xc_sel.shape[1] > 0:
  124. rank_and_save(Xc_sel, y, out_dir / "cpg_selected_log2fc_then_mi_top.csv", top=args.top, seed=args.seed)
  125. else:
  126. rank_and_save(Xc, y, out_dir / "cpg_mutual_information_top.csv", top=args.top, seed=args.seed)
  127. # Fallback: overall MI ranking (all features)
  128. X_all = X.apply(pd.to_numeric, errors="coerce").fillna(0.0)
  129. rank_and_save(X_all, y, out_dir / "all_features_mutual_information_top.csv", top=args.top, seed=args.seed)
  130. print(f"Wrote outputs to: {out_dir}")
  131. if __name__ == "__main__":
  132. main()

feature_selection_gene_cpg.py at commit 18c7d2f, under CC-BY-NC-4.0 · at the source

Overview

Authors: Yashu Vashishath1,2,3, Bizhan Alipour Pijani1,2,3, Neha Goud Baddam1,2,3, Fahad Saeed4, Serdar Bozdag1,2,3,5, for the Alzheimer’s Disease Neuroimaging Initiative
  1. Department of Computer Science and Engineering, University of North Texas, Denton, TX 76203, United States
  2. Center for Computational Life Sciences, University of North Texas, Denton, TX 76203, United States
  3. BioDiscovery Institute, University of North Texas, Denton, TX 76203, United States
  4. School of Computing and Information Sciences, Florida International University, Miami, FL 33199, United States
  5. Department of Mathematics, University of North Texas, Denton, TX 76203, United States
Institutions: University of North Texas (United States); Florida International University (United States)
Journal: Bioinformatics advances, volume 6, issue 1, article vbag085
Dates: received 12 December 2025; accepted 28 February 2026; published online 28 March 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1093/bioadv/vbag085 · PMID 42109582 · PMCID PMC13157226 · OpenAlex W7142678317
Open access: gold, a free copy (OpenAlex)
Status: code verified (how the code is found and verified)
Categories: genetics / omics (modality), human (organism), Alzheimer's / dementia (population), methods / tools (subfield)
Methods: Spectral & time-frequency, Statistics, Machine learning, Connectivity
Topic: Genetic Associations and Epidemiology (Genetics, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Citations: not cited yet (Europe PMC); 35 references in the paper

Abstract

Motivation: Early prediction of Alzheimer’s disease (AD) progression from mild cognitive impairment (MCI) remains a major challenge, particularly when relying on non-invasive biomarkers. Identifying individuals with progressive MCI (pMCI) before conversion to AD could improve intervention strategies and clinical management. In this study, we developed a machine learning (ML) framework integrating blood-based multi-omics and demographic data to distinguish pMCI from stable MCI (sMCI).

Results: We trained ML models using combinations of single nucleotide polymorphism (SNP), DNA methylation, gene expression, lipid, and bile acid metabolite data using both early and late data integration strategies. Late integration consistently outperformed early integration, with the L1-regularized logistic regression model achieving the highest F1 score of 90.7% when combining SNP and lipid data. Feature interpretability analyses using LIME and SHAP identified reproducible biomarkers across omic layers, including SNPs in MYH11, FOXP1, MAPK10, and SYN3; methylation changes in CDX2 and DHX58; and altered ceramide lipid CER.D19.1.24.0 levels, all previously associated with AD-related pathology. These findings demonstrate that combining multi-omics and demographic data can improve early prediction of AD progression and support the feasibility of blood-based, interpretable biomarkers for precision diagnostics.

Availability and implementation: The data analyzed in this study were obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database (https://adni.loni.usc.edu/) and are available to qualified researchers upon application. The code used in this study, together with instructions and a toy dataset, is available at: https://github.com/bozdaglab/AD_sMCI_vs_pMCI.

Reproduced under the paper's license (CC BY), from the paper cited above.

Repository

Its files are read in the Code ↔ Paper reader above, with 9 matches between paragraphs and lines of code.

bozdaglab/AD_sMCI_vs_pMCI

License: CC-BY-NC-4.0
State: the link answers, verified on 30 September 2026
Evidence: files inventoried
Commit: 18c7d2fc3ee61d0272db41b81e96e3bf5f35262c, 26 February 2026
Languages: Python (5), Shell (1), R (1)
Size: 13 files, 7 scripts
Software Heritage: not archived
Found in: “Code availability”
Holds: README, license file
Not found: CITATION.cff, environment file, tests, continuous integration, documentation
Tools: NumPy (4 files), pandas (4 files), scikit-learn (4 files), SHAP (2 files), XGBoost (1 file)
Availability: 1 check, the latest on 30 September 2026: the link answers
  • 30 September 2026: the link answers
9 files

Availability and implementation

The data analyzed in this study were obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database (https://adni.loni.usc.edu/) and are available to qualified researchers upon application. The code used in this study, together with instructions and a toy dataset, is available at: https://github.com/bozdaglab/AD_sMCI_vs_pMCI.

Reproduced under the paper's license (CC BY), from the paper cited above.

Code availability

The code used in this study, along with instructions and a toy dataset, is available at https://github.com/bozdaglab/AD_sMCI_vs_pMCI.

Reproduced under the paper's license (CC BY), from the paper cited above.

Tracing map

Proposed by the machine: these links were found in the paper and verified at the source, without human review. The map will receive a Zenodo DOI once one of the paper's authors has validated it with their ORCID.

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  • 1 repository of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
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Data

No dataset and no data link were found in the paper.

Data availability

The data analyzed in this study were obtained from the ADNI database (https://adni.loni.usc.edu/) and are available to qualified researchers upon application.

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

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Version 1, 30 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 6 authors, 26 references.

Cite

This paper

Vashishath, Y., Pijani, B. A., Goud Baddam, N., Saeed, F., Bozdag, S., & for the Alzheimer’s Disease Neuroimaging Initiative. (2026). Predicting progression of Alzheimer's disease using blood-based multi-omics data. Bioinformatics advances, 6(1), vbag085. https://doi.org/10.1093/bioadv/vbag085

BibTeX

@article{vashishath2026predicting,
author = {Vashishath, Yashu and Pijani, Bizhan Alipour and Goud Baddam, Neha and Saeed, Fahad and Bozdag, Serdar and {for the Alzheimer’s Disease Neuroimaging Initiative}},
title = {{Predicting progression of Alzheimer's disease using blood-based multi-omics data}},
journal = {Bioinformatics advances},
year = {2026},
month = mar,
volume = {6},
number = {1},
pages = {vbag085},
publisher = {Oxford University Press},
issn = {2635-0041},
doi = {10.1093/bioadv/vbag085},
url = {https://doi.org/10.1093/bioadv/vbag085},
pmid = {42109582},
pmcid = {PMC13157226}
}

RIS

TY - JOUR
AU - Vashishath, Yashu
AU - Pijani, Bizhan Alipour
AU - Goud Baddam, Neha
AU - Saeed, Fahad
AU - Bozdag, Serdar
AU - for the Alzheimer’s Disease Neuroimaging Initiative
TI - Predicting progression of Alzheimer's disease using blood-based multi-omics data
T2 - Bioinformatics advances
J2 - Bioinform Adv
PY - 2026
DA - 2026/03/28
VL - 6
IS - 1
SP - vbag085
SN - 2635-0041
PB - Oxford University Press
DO - 10.1093/bioadv/vbag085
UR - https://doi.org/10.1093/bioadv/vbag085
LA - en
ER -

CSL-JSON

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