Artificial Intelligence1 min read

AlphaGenome 2: Deciphering how cells read DNA to better understand disease

By · Published by Everything Blog

In short

The architecture functions as a conditional model that processes a million-letter DNA sequence alongside specific biological conditions to evaluate one cell state at a time. It captures subtle variations in specialized targets, such as heart muscle and blood immune cells, using extensive single-cell and bulk datasets. Furthermore, the system supports cross-modality imputation, enabling scientists to predict unmeasured features like chromatin accessibility from existing data.

Key points

  • The model evaluates DNA effects for individual tissues, cell types, or cell states rather…: The model evaluates DNA effects for individual tissues, cell types, or cell states rather than relying on tissue averages.
  • Cross-modality imputation allows scientists to prioritize lab experiments by inferring un…: Cross-modality imputation allows scientists to prioritize lab experiments by inferring unmeasured biological properties from single measurements.
  • The technology is accessible via an API for non-commercial research and is offered throug…: The technology is accessible via an API for non-commercial research and is offered through a private preview for commercial entities.

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Our next-generation DNA sequence model bridges single-cell biology and human genetics, predicting how genetic variants affect hundreds of human cell types.

Today, we are announcing AlphaGenome 2, our next-generation model that predicts how DNA sequences and their variations impact specific human cell types, giving scientists a powerful new tool to uncover the cellular drivers of disease.

Cells are the building blocks of life. Every cell in our body carries the same DNA blueprint, yet each cell type and state—like a heart muscle cell or an immune cell fighting an infection—switches different genes on or off to do its job. Global efforts like the Human Cell Atlas are mapping this gene expression for millions of cells, but it is still an unsolved challenge to predict how subtle DNA variations affect this expression in cells, which is a key driver of human traits and disease.

Last year, we launched AlphaGenome to predict how DNA variants affect molecular activity across broad tissues. We expanded its reach with AlphaGenome Atlas, a platform containing predictions for all 9 billion possible single-letter changes in the human…

Artificial Intelligence