Predicting progression of Alzheimer's disease using blood-based multi-omics data.
The 9 matches
- [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] § 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] § 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] § 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] § 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] § 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] § 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] § 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] § 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
- #!/usr/bin/env python3
- """Gene / CpG feature-selection (public repo version).
- This script keeps a runnable example for GitHub using the bundled toy dataset,
- while preserving the key paper-style step of selecting features by effect size:
- selected_* = log2fc[abs(log2fc) >= 0.25]
- Behavior
- - Loads a CSV with a binary `Phenotype` column.
- - Detects gene expression columns by suffix `_gene` and CpG methylation columns
- by suffix `_cpg` (if present).
- - For each feature set (genes / CpGs), computes class-wise means and log2 fold
- change (pMCI vs sMCI), then filters by |log2FC| >= threshold (default 0.25).
- - Ranks the filtered features with mutual information and writes top-N lists.
- - Always writes an overall ranking as a fallback.
- Notes
- - Toy data may not contain `_cpg` columns; the CpG branch will be skipped.
- - For methylation beta values, log2FC is a simple effect-size proxy; you may
- prefer mean difference instead. This implementation keeps the original step
- you requested for parity.
- Usage
- python code/feature_selection/feature_selection_gene_cpg.py \
- --csv data/toy/toy_complete_data.csv \
- --out out/feature_selection \
- --top 50 \
- --log2fc-thresh 0.25
- """
- from __future__ import annotations
- import argparse
- from pathlib import Path
- import numpy as np
- import pandas as pd
- from sklearn.feature_selection import mutual_info_classif
- LABEL_COL = "Phenotype"
- def load_xy(csv_path: Path) -> tuple[pd.DataFrame, np.ndarray]:
- df = pd.read_csv(csv_path)
- if LABEL_COL not in df.columns:
- raise ValueError(f"Expected a '{LABEL_COL}' column.")
- y_raw = df[LABEL_COL].astype(int)
- uniq = sorted(y_raw.unique().tolist())
- if uniq == [1, 2]:
- # sMCI=1, pMCI=2 -> 0/1
- y = (y_raw - 1).astype(int).to_numpy()
- elif len(uniq) == 2:
- y = y_raw.map({uniq[0]: 0, uniq[1]: 1}).astype(int).to_numpy()
- else:
- raise ValueError(f"Expected binary labels, got: {uniq}")
- X = df.drop(columns=[LABEL_COL])
- return X, y
- def compute_log2fc(X: pd.DataFrame, y: np.ndarray, eps: float = 1e-9) -> pd.Series:
- """Compute log2 fold change of feature means: class1 / class0.
- log2FC = log2( mean(y=1) / mean(y=0) )
- eps avoids division by zero.
- """
- X0 = X.loc[y == 0]
- X1 = X.loc[y == 1]
- m0 = X0.mean(axis=0)
- m1 = X1.mean(axis=0)
- log2fc = np.log2((m1 + eps) / (m0 + eps))
- return pd.Series(log2fc, index=X.columns, name="log2fc")
- def rank_and_save(
- X: pd.DataFrame,
- y: np.ndarray,
- out_csv: Path,
- top: int,
- seed: int = 42,
- ) -> pd.DataFrame:
- if X.shape[1] == 0:
- raise ValueError("No features to rank (empty feature matrix).")
- mi = mutual_info_classif(X.to_numpy(), y, random_state=seed)
- res = (
- pd.DataFrame({"feature": X.columns, "score": mi})
- .sort_values("score", ascending=False)
- .head(top)
- )
- out_csv.parent.mkdir(parents=True, exist_ok=True)
- res.to_csv(out_csv, index=False)
- return res
- def log2fc_filter(
- X: pd.DataFrame,
- y: np.ndarray,
- thresh: float,
- eps: float = 1e-9,
- ) -> tuple[pd.DataFrame, pd.Series]:
- """Filter features by absolute log2FC threshold."""
- log2fc = compute_log2fc(X, y, eps=eps)
- selected = log2fc[log2fc.abs() >= thresh] # <-- requested key step
- X_sel = X[selected.index]
- return X_sel, log2fc
- def main() -> None:
- ap = argparse.ArgumentParser()
- ap.add_argument("--csv", type=str, default=None, help="CSV path (default: toy dataset)")
- ap.add_argument("--out", type=str, default=None, help="Output dir (default: repo_root/out/feature_selection)")
- ap.add_argument("--top", type=int, default=50, help="Top N features to write per ranking")
- ap.add_argument("--seed", type=int, default=42, help="Random seed for MI")
- ap.add_argument("--log2fc-thresh", type=float, default=0.25, help="Abs(log2FC) threshold")
- ap.add_argument("--eps", type=float, default=1e-9, help="Small constant to avoid division by zero")
- args = ap.parse_args()
- here = Path(__file__).resolve()
- repo_root = here.parents[2]
- csv_path = Path(args.csv).expanduser().resolve() if args.csv else (repo_root / "data" / "toy" / "toy_complete_data.csv")
- out_dir = Path(args.out).expanduser().resolve() if args.out else (repo_root / "out" / "feature_selection")
- out_dir.mkdir(parents=True, exist_ok=True)
- X, y = load_xy(csv_path)
- gene_cols = [c for c in X.columns if c.endswith("_gene")]
- cpg_cols = [c for c in X.columns if c.endswith("_cpg")]
- # Genes
- if gene_cols:
- Xg = X[gene_cols].apply(pd.to_numeric, errors="coerce").fillna(0.0)
- Xg_sel, log2fc_g = log2fc_filter(Xg, y, thresh=args.log2fc_thresh, eps=args.eps)
- # Save full log2FC table + selected list
- log2fc_g.to_csv(out_dir / "gene_log2fc.csv", header=True)
- log2fc_g[log2fc_g.abs() >= args.log2fc_thresh].to_csv(out_dir / "gene_selected_by_log2fc.csv", header=True)
- if Xg_sel.shape[1] > 0:
- rank_and_save(Xg_sel, y, out_dir / "gene_selected_log2fc_then_mi_top.csv", top=args.top, seed=args.seed)
- else:
- # If threshold selects nothing, still provide MI ranking for all genes
- rank_and_save(Xg, y, out_dir / "gene_mutual_information_top.csv", top=args.top, seed=args.seed)
- # CpGs
- if cpg_cols:
- Xc = X[cpg_cols].apply(pd.to_numeric, errors="coerce").fillna(0.0)
- Xc_sel, log2fc_c = log2fc_filter(Xc, y, thresh=args.log2fc_thresh, eps=args.eps)
- log2fc_c.to_csv(out_dir / "cpg_log2fc.csv", header=True)
- log2fc_c[log2fc_c.abs() >= args.log2fc_thresh].to_csv(out_dir / "cpg_selected_by_log2fc.csv", header=True)
- if Xc_sel.shape[1] > 0:
- rank_and_save(Xc_sel, y, out_dir / "cpg_selected_log2fc_then_mi_top.csv", top=args.top, seed=args.seed)
- else:
- rank_and_save(Xc, y, out_dir / "cpg_mutual_information_top.csv", top=args.top, seed=args.seed)
- # Fallback: overall MI ranking (all features)
- X_all = X.apply(pd.to_numeric, errors="coerce").fillna(0.0)
- rank_and_save(X_all, y, out_dir / "all_features_mutual_information_top.csv", top=args.top, seed=args.seed)
- print(f"Wrote outputs to: {out_dir}")
- if __name__ == "__main__":
- main()
feature_selection_gene_cpg.py at commit 18c7d2f, under CC-BY-NC-4.0 · at the source
Overview
- Department of Computer Science and Engineering, University of North Texas, Denton, TX 76203, United States
- Center for Computational Life Sciences, University of North Texas, Denton, TX 76203, United States
- BioDiscovery Institute, University of North Texas, Denton, TX 76203, United States
- School of Computing and Information Sciences, Florida International University, Miami, FL 33199, United States
- Department of Mathematics, University of North Texas, Denton, TX 76203, United States
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://
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
18c7d2fc3ee61d0272db41b81e96e3bf5f35262c, 26 February 2026Availability: 1 check, the latest on 30 September 2026: the link answers
- 30 September 2026: the link answers
9 files
- Early_Late_integration.p
y , Python, 346 lines, 3 matches - feature_selection_gene_c
pg.py , Python, 165 lines, 4 matches - feature_selection_lipid.
py , Python, 204 lines - feature_selection_type.p
y , Python, 11 lines, 1 match - gwas_pipeline.sh, Shell, 80 lines
- methylation_minfi.R, R, 92 lines, 1 match
- run_shap_lime_10x.py, Python, 200 lines
- LICENSE.txt, License, 94 lines
- README.md, Text, 134 lines
Availability and implementation
The data analyzed in this study were obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database (https://
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://
Reproduced under the paper's license (CC BY), from the paper cited above.
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Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.
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://
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://
BibTeX
@article{vashishath2026p
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/
url = {https://
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/
VL - 6
IS - 1
SP - vbag085
SN - 2635-0041
PB - Oxford University Press
DO - 10.1093/
UR - https://
LA - en
ER -
CSL-JSON
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