import torch import torch.nn as nn import torch.nn.functional as F class MutationPredictorCNN(nn.Module): """ Mutation Pathogenicity Predictor CNN Architecture matches the trained checkpoint weights """ def __init__(self): super().__init__() # Convolutional layers - CORRECTED kernel sizes to match checkpoint self.conv1 = nn.Conv1d(11, 64, kernel_size=7, padding=3) # Changed from 5 to 7 self.bn1 = nn.BatchNorm1d(64) self.conv2 = nn.Conv1d(64, 128, kernel_size=5, padding=2) # Correct self.bn2 = nn.BatchNorm1d(128) self.conv3 = nn.Conv1d(128, 256, kernel_size=3, padding=1) # Changed from 5 to 3 self.bn3 = nn.BatchNorm1d(256) # Pooling layers to reduce dimensions self.pool = nn.MaxPool1d(kernel_size=2, stride=2) # Mutation type processing - CORRECTED self.mut_fc = nn.Linear(12, 32) # Changed from (256, 1) to (12, 32) # After 3 pooling layers: 99 -> 49 -> 24 -> 12 # Conv output: 256 channels * 12 positions = 3072 # Mutation features: 32 # Total: 3072 + 32 = 3104 # BUT checkpoint shows fc1 is (128, 288) # So we need adaptive pooling to get 256 features from conv self.adaptive_pool = nn.AdaptiveAvgPool1d(1) # Pool to single value per channel # Fully connected layers - CORRECTED to match checkpoint # Input: 256 (conv) + 32 (mutation) = 288 self.fc1 = nn.Linear(288, 128) # Changed from (256*99, 256) to (288, 128) self.fc2 = nn.Linear(128, 64) # Changed from (256, 64) to (128, 64) self.fc3 = nn.Linear(64, 1) # Correct # Importance head - CORRECTED # Takes conv features (256) and outputs single importance score self.importance_head = nn.Linear(256, 1) # Changed from (256*99, 99) to (256, 1) def forward(self, x): """ Forward pass Args: x: Input tensor (batch, 1101) [0:990] - sequence features (99*10) [990:1089] - difference mask (99) [1089:1101] - mutation type (12) Returns: cls: Classification output (batch, 1) importance: Importance score (batch, 1) """ batch_size = x.size(0) # Extract mutation type for separate processing mut_type = x[:, 1089:1101] # Last 12 dimensions # Reshape remaining features for CNN # First 1089 features -> reshape to (batch, 11, 99) x_seq = x[:, :1089].view(batch_size, 11, 99) # Convolutional layers with pooling x_conv = F.relu(self.bn1(self.conv1(x_seq))) x_conv = self.pool(x_conv) # 99 -> 49 x_conv = F.relu(self.bn2(self.conv2(x_conv))) x_conv = self.pool(x_conv) # 49 -> 24 x_conv = F.relu(self.bn3(self.conv3(x_conv))) x_conv = self.pool(x_conv) # 24 -> 12 # Adaptive pooling to get fixed 256 features x_conv = self.adaptive_pool(x_conv) # (batch, 256, 1) conv_features = x_conv.view(batch_size, 256) # (batch, 256) # Process mutation type mut_features = F.relu(self.mut_fc(mut_type)) # (batch, 32) # Concatenate features combined = torch.cat([conv_features, mut_features], dim=1) # (batch, 288) # Classification branch x = F.relu(self.fc1(combined)) x = F.relu(self.fc2(x)) cls = torch.sigmoid(self.fc3(x)) # (batch, 1) # Importance branch (uses conv features) importance = torch.sigmoid(self.importance_head(conv_features)) # (batch, 1) return cls, importance if __name__ == "__main__": # Test the model print("Testing MutationPredictorCNN...") model = MutationPredictorCNN() # Test input (batch_size=2, features=1101) test_input = torch.randn(2, 1101) cls, importance = model(test_input) print(f"Input shape: {test_input.shape}") print(f"Classification output shape: {cls.shape}") print(f"Importance output shape: {importance.shape}") print("\nModel parameter shapes (should match checkpoint):") for name, param in model.named_parameters(): print(f"{name:30s}: {str(param.shape):20s}") print("\nExpected parameter shapes from checkpoint:") print("conv1.weight : torch.Size([64, 11, 7])") print("conv3.weight : torch.Size([256, 128, 3])") print("mut_fc.weight : torch.Size([32, 12])") print("fc1.weight : torch.Size([128, 288])") print("importance_head.weight : torch.Size([1, 256])")