A non-linear game for two: genetic parameters and prediction of fertilization success using Bayesian and machine learning frameworks.
The 2 matches
- [1] § Methods › Two-tower MLP model ↔ 2tower_MLP/AC_fert_2tower.ipynb, lines 349–428 · score 0.60 · class weighted, PyTorch, epoch, binary, accuracy, Training
- [2] § Methods › Estimation of genetic parameters for latent fertility traits ↔ 2tower_MLP/AC_fert_2tower.ipynb, lines 349–428 · score 0.52 · latent liability, binary fertilization, matrix, sires, model
Paper
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The authors' code
Jupyter notebook · 492 lines · 17 KB · no license · 2 matches
- # %%
- import numpy as np
- import pandas as pd
- import torch
- import math
- import torch.nn as nn
- import torch.nn.functional as F
- from sklearn.model_selection import StratifiedGroupKFold
- from sklearn.metrics import accuracy_score, roc_auc_score, average_precision_score, confusion_matrix, roc_curve
- import matplotlib.pyplot as plt
- from torch.utils.data import Dataset, DataLoader
- import warnings
- warnings.filterwarnings("ignore")
- SEED = 42
- np.random.seed(SEED)
- torch.manual_seed(SEED)
- # =============================
- # Data loading and preprocessing
- # =============================
- A_df = pd.read_csv("ApIcl.csv", index_col=0)
- A_df.index = (
- A_df.index.astype(str)
- .str.strip()
- .str.upper()
- .str.replace(r"\.0$", "", regex=True)
- )
- A_df.columns = A_df.columns.astype(str).str.strip().str.upper()
- A_df = A_df.replace([np.inf, -np.inf], np.nan).fillna(0.0).astype(np.float32)
- # Founders
- A_features_founder = {idx: row.values.astype(np.float32) for idx, row in A_df.iterrows()}
- def assign_founder_features(df, lookup):
- df = df.copy()
- df["Sire"] = df["Sire"].astype(str)
- df["Dam"] = df["Dam"].astype(str)
- df["Sire_features"] = df["Sire"].map(lookup)
- df["Dam_features"] = df["Dam"].map(lookup)
- return df
- crosses_df = pd.read_csv("EggsIcl.csv", index_col=0)
- crosses_df = assign_founder_features(crosses_df, A_features_founder)
- # Feature vector
- EXPECTED_DIM = A_df.shape[1]
- DEFAULT_VEC = np.zeros(EXPECTED_DIM, dtype=np.float32)
- def clean_features(x):
- if isinstance(x, (list, np.ndarray)):
- v = np.asarray(x, dtype=np.float32)
- if v.shape[0] == EXPECTED_DIM:
- return np.nan_to_num(v, nan=0.0, posinf=0.0, neginf=0.0)
- return DEFAULT_VEC
- for col in ["Sire_features", "Dam_features"]:
- crosses_df[col] = crosses_df[col].apply(clean_features)
- crosses_df = crosses_df.reset_index(drop=True)
- # =========
- # Dataloader
- # ============
- def build_inputs_matrix(df):
- sire = np.stack(df["Sire_features"]).astype(np.float32)
- dam = np.stack(df["Dam_features"]).astype(np.float32)
- return sire, dam
- class FertilityDataset(Dataset):
- def __init__(self, df):
- sire_feats, dam_feats = build_inputs_matrix(df)
- sire_feats = np.nan_to_num(sire_feats, nan=0.0, posinf=0.0, neginf=0.0).astype(np.float32)
- dam_feats = np.nan_to_num(dam_feats, nan=0.0, posinf=0.0, neginf=0.0).astype(np.float32)
- self.sire_input = torch.tensor(sire_feats, dtype=torch.float32)
- self.dam_input = torch.tensor(dam_feats, dtype=torch.float32)
- self.y = torch.tensor(df["BinPheno"].values, dtype=torch.float32)
- # IDs
- sire_col, dam_col, cross_col = ["Sire", "Dam", "Cohort.Sib"]
- self.sire_ids = (df[sire_col].astype(str).tolist() if sire_col else df.index.astype(str).tolist())
- self.dam_ids = (df[dam_col].astype(str).tolist() if dam_col else df.index.astype(str).tolist())
- self.cross_ids = (df[cross_col].astype(str).tolist() if cross_col else ["" for _ in range(len(df))])
- self._sire_col_name = sire_col or "SireID_fallback"
- self._dam_col_name = dam_col or "DamID_fallback"
- self._cross_col_name = cross_col or "CrossID"
- def __len__(self):
- return len(self.y)
- def __getitem__(self, idx):
- return (self.sire_input[idx],
- self.dam_input[idx],
- self.y[idx],
- self.sire_ids[idx],
- self.dam_ids[idx],
- self.cross_ids[idx])
- # =====
- # Model
- # ======
- class BinaryFertilityModel(nn.Module):
- def __init__(self, input_dim, dropout1=0.2, dropout2=0.2):
- super().__init__()
- self.sire_net = self._make_tower(input_dim, dropout1, dropout2)
- self.dam_net = self._make_tower(input_dim, dropout1, dropout2)
- @staticmethod
- def _make_tower(input_dim, d1, d2):
- return nn.Sequential(
- nn.Linear(input_dim, 128), nn.ReLU(), nn.Dropout(d1),
- nn.Linear(128, 64), nn.ReLU(), nn.Dropout(d2),
- nn.Linear(64, 32), nn.ReLU(),
- nn.Linear(32, 1)
- )
- def forward(self, sire_input, dam_input):
- a = self.sire_net(sire_input).squeeze(-1)
- b = self.dam_net(dam_input).squeeze(-1)
- return a, b
- # =========================
- # Helpers: probs, loss, eval
- # =========================
- def _phi(x: torch.Tensor) -> torch.Tensor:
- # Standard normal CDF
- if hasattr(torch.special, "ndtr"):
- return torch.special.ndtr(x)
- return 0.5 * (1.0 + torch.erf(x / math.sqrt(2.0)))
- def probs_from_scores(a, b, link="probit", stable=True, eps=1e-7):
- """
- Turn tower outputs a, b into a joint (fused) probability.
- """
- if link == "probit":
- if stable and hasattr(torch.special, "log_ndtr"):
- # log version
- log_p = torch.special.log_ndtr(a) + torch.special.log_ndtr(b)
- p = torch.exp(log_p)
- else:
- p = _phi(a) * _phi(b)
- elif link == "logit":
- if stable:
- # log
- log_p = -F.softplus(-a) + -F.softplus(-b)
- p = torch.exp(log_p)
- else:
- p = torch.sigmoid(a) * torch.sigmoid(b)
- else:
- raise ValueError(f"Unknown link: {link}")
- return torch.clamp(p, min=eps, max=1.0 - eps)
- def weighted_bce_on_prob(p, y, pos_weight_value, device):
- per_sample_nll = -(y * torch.log(p) + (1 - y) * torch.log(1 - p))
- pos_w = torch.as_tensor(pos_weight_value, dtype=torch.float32, device=device)
- w = torch.where(y > 0.5, pos_w, torch.tensor(1.0, device=device))
- return (per_sample_nll * w).sum() / w.sum()
- @torch.no_grad()
- def evaluate_split(model, loader, device="cpu", threshold=0.5,
- return_ids=False, return_scores=False):
- model.eval()
- all_probs, all_labels = [], []
- all_sire_ids, all_dam_ids, all_cross_ids = [], [], []
- all_a, all_b = [], []
- for batch in loader:
- if len(batch) == 3:
- sire_x, dam_x, y = batch
- sire_ids = dam_ids = cross_ids = None
- else:
- sire_x, dam_x, y, sire_ids, dam_ids, cross_ids = batch
- sire_x, dam_x = sire_x.to(device), dam_x.to(device)
- a, b = model(sire_x, dam_x)
- p_joint = probs_from_scores(a, b, link="probit", stable=True)
- if return_scores:
- all_a.extend(a.detach().cpu().numpy().ravel())
- all_b.extend(b.detach().cpu().numpy().ravel())
- all_probs.extend(p_joint.cpu().numpy().ravel())
- all_labels.extend(y.numpy().ravel())
- if return_ids and sire_ids is not None:
- all_sire_ids.extend(sire_ids)
- all_dam_ids.extend(dam_ids)
- all_cross_ids.extend(cross_ids)
- y_true = np.asarray(all_labels)
- y_prob = np.asarray(all_probs)
- y_pred = (y_prob >= threshold).astype(int)
- acc = accuracy_score(y_true, y_pred)
- if len(np.unique(y_true)) > 1:
- auc = roc_auc_score(y_true, y_prob)
- prau = average_precision_score(y_true, y_prob)
- else:
- auc, prau = np.nan, np.nan
- cm = confusion_matrix(y_true, y_pred)
- out = (acc, auc, prau, cm, y_true, y_prob)
- if return_ids and len(all_sire_ids) > 0:
- out += (np.array(all_sire_ids), np.array(all_dam_ids), np.array(all_cross_ids))
- if return_scores:
- out += (np.array(all_a), np.array(all_b)) # latent liabilities
- return out
- # =========================
- # Training (early stopping)
- # =========================
- def train_model(model, train_loader, val_loader, pos_weight_value,
- epochs=200, lr=1e-3, weight_decay=1e-4, device="cpu",
- patience=15, max_grad_norm=5.0, return_best_epoch=False):
- model.to(device)
- optim = torch.optim.Adam(model.parameters(), lr=lr, weight_decay=weight_decay)
- best_auc = -float("inf")
- best_state = None
- best_epoch = 0
- patience_ctr = 0
- for epoch in range(1, epochs + 1):
- model.train()
- # training loop
- for sire_x, dam_x, y, _sire_ids, _dam_ids, _cross_ids in train_loader:
- sire_x, dam_x, y = sire_x.to(device), dam_x.to(device), y.to(device)
- a, b = model(sire_x, dam_x)
- p = probs_from_scores(a, b, link="probit", stable=False)
- loss = weighted_bce_on_prob(p, y, pos_weight_value, device)
- if not torch.isfinite(loss):
- continue
- optim.zero_grad()
- loss.backward()
- if max_grad_norm is not None:
- nn.utils.clip_grad_norm_(model.parameters(), max_grad_norm)
- optim.step()
- acc_v, auc_v, pr_v, _, _, _ = evaluate_split(model, val_loader, device=device, threshold=0.5)
- print(f"Epoch {epoch:03d} | Val Acc {acc_v:.3f} | Val AUC {auc_v:.3f} | Val PR-AUC {pr_v:.3f}")
- if auc_v > best_auc:
- best_auc = auc_v
- best_epoch = epoch
- best_state = {k: v.detach().cpu().clone() for k, v in model.state_dict().items()}
- patience_ctr = 0
- else:
- patience_ctr += 1
- if patience_ctr >= patience:
- print(f"Early stopping at epoch {epoch} — best Val AUC {best_auc:.3f} (epoch {best_epoch})")
- break
- if best_state is not None:
- model.load_state_dict(best_state)
- print(f"Restored best model (Val AUC {best_auc:.3f} at epoch {best_epoch})")
- return (model, best_epoch) if return_best_epoch else model
- # ====================================
- # 80/20 split + inner 4-fold grid search
- # =======================================
- device = "cuda" if torch.cuda.is_available() else "cpu"
- input_dim = EXPECTED_DIM
- # Grid for first/second layer dropout
- dropout1_grid = [0.0, 0.1, 0.2, 0.3, 0.4, 0.5]
- dropout2_grid = [0.0, 0.1, 0.2, 0.3, 0.4, 0.5]
- # 80/20 stratified split
- groups_all = crosses_df["Cohort"].astype(str).values
- y_all = crosses_df["BinPheno"].values.astype(int)
- sgkf_80_20 = StratifiedGroupKFold(n_splits=5, shuffle=True, random_state=SEED)
- train_idx_all, test_idx = next(sgkf_80_20.split(np.zeros(len(y_all)), y_all, groups_all))
- train_df = crosses_df.iloc[train_idx_all].reset_index(drop=True).copy()
- test_df = crosses_df.iloc[test_idx].reset_index(drop=True).copy()
- print(f"Train size: {len(train_df)} | Test size: {len(test_df)}")
- assert set(train_df["Cohort"]).isdisjoint(set(test_df["Cohort"])), "Group leakage"
- # Inner 4-fold CV on 80% for dropout search
- inner_groups = train_df["Cohort"].astype(str).values
- inner_y = train_df["BinPheno"].values.astype(int)
- inner_cv = StratifiedGroupKFold(n_splits=4, shuffle=True, random_state=SEED)
- grid_scores = [] # (d1, d2, mean_auc, mean_prauc)
- epoch_book = {} # key: (d1, d2) -> list of best_epoch
- for d1 in dropout1_grid:
- for d2 in dropout2_grid:
- fold_metrics = []
- epoch_book[(d1, d2)] = []
- print(f"\nGrid candidate: dropout1={d1}, dropout2={d2}")
- for tr_idx, val_idx in inner_cv.split(np.zeros(len(inner_y)), inner_y, inner_groups):
- tr_df = train_df.iloc[tr_idx].reset_index(drop=True).copy()
- va_df = train_df.iloc[val_idx].reset_index(drop=True).copy()
- tr_loader = DataLoader(FertilityDataset(tr_df), batch_size=32, shuffle=True)
- va_loader = DataLoader(FertilityDataset(va_df), batch_size=64, shuffle=False)
- n_pos = int((tr_df["BinPheno"] == 1).sum())
- n_neg = int((tr_df["BinPheno"] == 0).sum())
- pos_weight_value = float(n_neg) / max(1.0, float(n_pos))
- model = BinaryFertilityModel(input_dim=input_dim, dropout1=d1, dropout2=d2)
- model, best_ep = train_model(
- model, tr_loader, va_loader, pos_weight_value,
- epochs=200, lr=1e-3, weight_decay=1e-4,
- device=device, patience=15, max_grad_norm=5.0,
- return_best_epoch=True
- )
- acc, auc, prauc, _, _, _ = evaluate_split(model, va_loader, device=device, threshold=0.5)
- fold_metrics.append((acc, auc, prauc))
- epoch_book[(d1, d2)].append(best_ep)
- fm = np.array(fold_metrics, dtype=float)
- mean_auc = np.nanmean(fm[:, 1])
- mean_prauc = np.nanmean(fm[:, 2])
- grid_scores.append((d1, d2, mean_auc, mean_prauc))
- print(f" 4-fold CV -> Mean AUC={mean_auc:.3f} | Mean PR-AUC={mean_prauc:.3f}")
- # Pick best by mean ROC AUC
- grid_scores.sort(key=lambda t: (t[2], t[3]), reverse=True)
- best_d1, best_d2, best_auc_inner, best_pra_inner = grid_scores[0]
- best_epochs = epoch_book[(best_d1, best_d2)]
- fixed_epochs = int(np.median(best_epochs)) if len(best_epochs) else 100
- print("\n=== GRID SEARCH SUMMARY ===")
- print(f"Best (dropout1, dropout2) = ({best_d1}, {best_d2})")
- print(f"4-fold mean AUC = {best_auc_inner:.3f} | mean PR-AUC = {best_pra_inner:.3f}")
- print("Grid (top 5):")
- for row in grid_scores[:5]:
- print(f" d1={row[0]} d2={row[1]} | mean AUC={row[2]:.3f} | mean PR-AUC={row[3]:.3f}")
- # %%
- # =========================
- # Final training on 80% with val, test on 20%
- # ============================================
- device = "cuda" if torch.cuda.is_available() else "cpu"
- input_dim = EXPECTED_DIM
- #best_d1 = 0.0
- #best_d2 = 0.5
- # Split 80% train_df into train_sub and val_sub
- inner_sgkf = StratifiedGroupKFold(n_splits=5, shuffle=True, random_state=SEED)
- tr_idx, va_idx = next(inner_sgkf.split(
- np.zeros(len(train_df)),
- train_df["BinPheno"].values,
- train_df["Cohort"].astype(str).values
- ))
- tr_df = train_df.iloc[tr_idx].reset_index(drop=True).copy()
- va_df = train_df.iloc[va_idx].reset_index(drop=True).copy()
- # DataLoaders
- tr_loader = DataLoader(FertilityDataset(tr_df), batch_size=32, shuffle=True)
- va_loader = DataLoader(FertilityDataset(va_df), batch_size=64, shuffle=False)
- te_loader = DataLoader(FertilityDataset(test_df), batch_size=64, shuffle=False)
- # Class weight from train_sub
- n_pos = int((tr_df["BinPheno"] == 1).sum())
- n_neg = int((tr_df["BinPheno"] == 0).sum())
- pos_weight_value = float(n_neg) / max(1.0, float(n_pos))
- # Train final model with best dropout and early stopping
- final_model = BinaryFertilityModel(input_dim=input_dim, dropout1=best_d1, dropout2=best_d2)
- final_model = train_model(
- final_model, tr_loader, va_loader, pos_weight_value,
- epochs=300, lr=1e-3, weight_decay=1e-4,
- device=device, patience=15, max_grad_norm=5.0)
- acc_t, auc_t, pr_t, cm_t, y_true_t, y_prob_t, sire_ids_t, dam_ids_t, cross_ids_t = evaluate_split(
- final_model, te_loader, device=device, threshold=0.5, return_ids=True)
- print("\nFINAL TEST RESULTS")
- print(f"Acc={acc_t:.3f} | AUC={auc_t:.3f} | PR-AUC={pr_t:.3f}")
- print("Confusion matrix:\n", cm_t)
- # IDs + latent scores
- res = evaluate_split(
- final_model, tr_loader, device=device, threshold=0.5,
- return_ids=True, return_scores=True
- )
- # Unpack
- (acc_t, auc_t, pr_t, cm_t,
- y_true_t, _y_prob_joint,
- sire_ids_t, dam_ids_t, cross_ids_t,
- a_sire_t, b_dam_t) = res
- # Output dataframe: IDs + latent liabilities
- out = {
- "SireID": sire_ids_t,
- "DamID": dam_ids_t,
- "a_sire": a_sire_t,
- "b_dam": b_dam_t,
- }
- if any(cross_ids_t):
- out["CrossID"] = cross_ids_t
- if isinstance(y_true_t, np.ndarray) and y_true_t.size == a_sire_t.size:
- out["y_true"] = y_true_t
- cols = [c for c in ["CrossID","SireID","DamID","y_true","a_sire","b_dam"] if c in out]
- latent_df = pd.DataFrame(out, columns=cols)
- latent_df.to_csv("final_test_latent_liabilities_with_ids.csv", index=False)
- print(latent_df.head())
- np.save("latents_sire_a.npy", a_sire_t)
- np.save("latents_dam_b.npy", b_dam_t)
- # %%
- full_loader = DataLoader(
- FertilityDataset(crosses_df),
- batch_size=64,
- shuffle=False
- )
- res_full = evaluate_split(
- final_model,
- full_loader,
- device=device,
- threshold=0.5,
- return_ids=True,
- return_scores=True
- )
- (acc_f, auc_f, pr_f, cm_f,
- y_true_f, _yprob_f,
- sire_ids_f, dam_ids_f, cross_ids_f,
- a_sire_f, b_dam_f) = res_full
- np.save("latents_full_sire_a.npy", a_sire_f)
- np.save("latents_full_dam_b.npy", b_dam_f)
- # %%
- final_model.eval()
- all_labels, all_probs = [], []
- with torch.no_grad():
- for sire_x, dam_x, y, _, _, _ in te_loader:
- sire_x, dam_x = sire_x.to(device), dam_x.to(device)
- a, b = final_model(sire_x, dam_x)
- probs = probs_from_scores(a, b, link="probit", stable=True)
- all_probs.extend(probs)
- all_labels.extend(y.numpy())
- all_labels = np.array(all_labels)
- all_probs = np.array(all_probs)
- pred_labels = (all_probs >= 0.5).astype(int)
- # Confusion matrix
- cm = confusion_matrix(all_labels, pred_labels)
- print("\nConfusion Matrix:\n", cm)
- # ROC + AUC
- auc_val = roc_auc_score(all_labels, all_probs)
- fpr, tpr, _ = roc_curve(all_labels, all_probs)
- plt.figure(figsize=(6,5))
- plt.plot(fpr, tpr, label=f"ROC Curve (AUC = {auc_val:.3f})")
- plt.plot([0, 1], [0, 1], linestyle="--")
- plt.xlabel("False Positive Rate")
- plt.ylabel("True Positive Rate")
- plt.title("ROC Curve — Final Test")
- plt.legend()
- plt.grid(True)
- plt.show()
AC_fert_2tower.ipynb at commit 9a0d895, no license · at the source
Overview
- Department of Animal Biosciences, Swedish University of Agricultural Sciences, Uppsala, Sweden
- Department of Aquaculture and Fish Biology, Hólar University, Sauðárkrókur, Iceland
Abstract
Fertility is an important but often cryptic and intrinsic characteristic of domesticated animals. Predicting reproductive potential is of great importance for the industry but assessment through indirect proxies is laborious and often impractical. Among other biological factors, genetic effects are expected to play a crucial role in shaping male and female fertility. In cases where heritable components are strong, polygenic merit could be a valuable tool for decision-making in breeding schemes. Here we estimate sex-specific variance components affecting fertilization success by analyzing outcomes of over 3000 controlled mating events in an Arctic charr breeding nucleus from Iceland. Furthermore, a machine learning framework using relationships-to-founder
Supplementary Information: The online version contains supplementary material available at 10.1186/
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pappasfotios/AC_Iceland_fertility
9a0d8952581e1e1458798aeee1d158cf78fdadf9, 25 September 2026Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
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- 2tower_MLP/
AC_fert_2tower.ipynb , Jupyter, 492 lines, 2 matches - Stan/
FertLiabilities.stan , Stan, 166 lines - README.md, Text, 10 lines
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Recorded: type, language, journal, volume, issue, pages, dates, 4 authors, 11 MeSH terms, 1 funder, 14 references.
Cite
This paper
Pappas, F., Debes, P. V., Johnsson, M., & Palaiokostas, C. (2026). A non-linear game for two: genetic parameters and prediction of fertilization success using Bayesian and machine learning frameworks. Genetics, selection, evolution : GSE, 58(1), 34. https://
BibTeX
@article{pappas2026non,
author = {Pappas, Fotis and Debes, Paul Vincent and Johnsson, Martin and Palaiokostas, Christos},
title = {{A non-linear game for two: genetic parameters and prediction of fertilization success using Bayesian and machine learning frameworks}},
journal = {Genetics, selection, evolution : GSE},
year = {2026},
month = jul,
volume = {58},
number = {1},
pages = {34},
publisher = {BMC},
issn = {0999-193X},
doi = {10.1186/
url = {https://
pmid = {42464095},
pmcid = {PMC13377850}
}
RIS
TY - JOUR
AU - Pappas, Fotis
AU - Debes, Paul Vincent
AU - Johnsson, Martin
AU - Palaiokostas, Christos
TI - A non-linear game for two: genetic parameters and prediction of fertilization success using Bayesian and machine learning frameworks
T2 - Genetics, selection, evolution : GSE
J2 - Genet Sel Evol
PY - 2026
DA - 2026/
VL - 58
IS - 1
SP - 34
SN - 0999-193X
PB - BMC
DO - 10.1186/
UR - https://
LA - en
ER -
CSL-JSON
{
"id": "10.1186/
"type": "article-journal",
"title": "A non-linear game for two: genetic parameters and prediction of fertilization success using Bayesian and machine learning frameworks",
"container-title": "Genetics, selection, evolution : GSE",
"author": [
{
"family": "Pappas",
"given": "Fotis"
},
{
"family": "Debes",
"given": "Paul Vincent"
},
{
"family": "Johnsson",
"given": "Martin"
},
{
"family": "Palaiokostas",
"given": "Christos"
}
],
"container-title-short":
"volume": "58",
"issue": "1",
"page": "34",
"DOI": "10.1186/
"PMID": "42464095",
"PMCID": "PMC13377850",
"ISSN": "0999-193X",
"publisher": "BMC",
"URL": "https://
"language": "en",
"issued": {
"date-parts": [
[
2026,
7,
16
]
]
}
}
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