Linkage disequilibrium causes blocks of DNA to be co-inherited, complicating the statistical separation of causal variants from correlated variants

Overview Debates Related claims Topics

AlphaGenome increased genomic prediction resolution from Enformer's 128 base pairs down to single base-pair resolution

Researchers at the Francis Crick Institute experimentally validated that a non-coding variant regulates a target gene situated 290,000 base pairs away

AlphaGenome Atlas precomputed variant effect predictions across all 9 billion possible single-nucleotide mutations in the human genome

In 2025, Google DeepMind unveiled AlphaGenome to predict the function of non-coding DNA across whole tissues

AlphaGenome 2 allows external researchers to input custom cell-type data to generate variant effect predictions without fine-tuning the model

AlphaGenome 2 evaluates variant impacts at the individual cell-type level rather than aggregate bulk tissue measurements

AlphaMissense uses AlphaFold as a base model fine-tuned to predict whether protein-coding missense mutations are pathogenic or benign

The human genome contains approximately 3 billion base pairs

Genotype refers to the specific sequence of adenine, cytosine, guanine, and thymine comprising an organism's DNA

AlphaFold2 was designed to be robust to mutations, resulting in limited sensitivity when predicting the structural impacts of mutations

Macrophages in the human intestine phagocytose pathogens encountered during digestion

AlphaGenome 2 predicted that a disease-associated non-coding variant regulates a target gene located 290,000 base pairs away

Demis Hassabis proposed the virtual cell vision as a computational system simulating cellular responses to genetic alterations and drug interventions

Sequencing of the human genome was completed in 2003

The AlphaGenome Variant Impact score model was trained to distinguish between common human variants and absent variants

Enformer was developed by Google DeepMind in collaboration with Calico to read DNA sequences

The pathogenic splicing mutation identified in Laura Kovel's pediatric epilepsy patient was experimentally validated in a cell line

Genome-wide association studies test for statistical correlations between genetic variants and observable traits across human populations

Broad Institute researcher Laura Kovel used the AlphaGenome Variant Impact score to identify the causal splicing variant in an infant with pediatric epilepsy

The AlphaGenome Variant Impact score compresses AlphaGenome outputs, AlphaMissense scores, and evolutionary conservation into a single metric