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Gene Regulation

3 GoKawiil briefs on this topic

Quanta Magazine: AI gene-regulation models like Evo 2, Genos and AlphaGenome still fall short of explaining the genome

A Quanta Magazine report reviews decades of genome research since the 1950s discovery of DNA's structure, noting that the Human Genome Project found only about 2% of human DNA encodes genes. The bulk of the mystery now lies in gene regulation—how genes are switched on and off—and researchers are turning to AI 'foundation models' such as Evo 2, Genos and Google DeepMind's AlphaGenome to help predict how DNA sequence changes affect biology.

Study catalogues human-specific gene-regulatory changes shaping the skeleton

Researchers compared genomes from over 100 non-human great apes—including bonobos, chimpanzees, gorillas and orangutans—against thousands of human genomes to identify DNA substitutions unique and fixed in humans. They applied strict filtering criteria involving sequencing depth, genotype quality and allelic balance, then cross-checked results against archaic human genomes from Neanderthals and Denisovans, producing a curated set of human-specific variants for further functional testing via a massively parallel reporter assay (MPRA).

Google DeepMind releases AlphaGenome Atlas covering 9 billion DNA variants

DeepMind has published the AlphaGenome Atlas, a free online database containing precomputed predictions for every possible single-letter change across the human reference genome—about 9 billion variants. Built on its AlphaGenome model introduced earlier in 2025 and detailed in a January Nature paper, the Atlas lets scientists browse results through a web interface instead of writing code or running the model themselves.