DeepMind Blog

AlphaGenome: AI for better understanding the genome

Introducing a new, unifying DNA sequence model that advances regulatory variant-effect prediction and promises to shed new light on genome function — now available via API.

arXiv AI
Jul 29

DeepVRegulome: DNABERT-based deep-learning framework for predicting the functional impact of short genomic variants on the human regulome

arXiv:2511. 09026v2 Announce Type: replace-cross Abstract: Whole-genome sequencing (WGS) has revealed numerous non-coding short variants whose functional impacts remain poorly understood.

By Pratik Dutta, Matthew Obusan, Rekha Sathian, Max Chao, Pallavi Surana, Nimisha Papineni, Yanrong Ji, Zhihan Zhou, Han Liu, Alisa Yurovsky, Ramana V Davuluri
arXiv Machine Learning
Sep 1

EvoLen: Evolution-Guided Tokenization for DNA Language Model

EvoLen is a tokenization method for DNA language models that incorporates evolutionary information to prioritize functional sequence patterns such as regulatory motifs. It groups DNA sequences by cross-species evolutionary signals, trains separate BPE tokenizers for each group, merges vocabularies with a rule that favors preserved patterns, and uses length-aware decoding with dynamic programming. Experiments show EvoLen better preserves functional motifs, differentiates genomic contexts, and aligns with evolutionary constraints while matching or surpassing standard BPE on various DNALM benchmarks.

By Nan Huang, Xiaoxiao Zhou, Junxia Cui, Mario Tapia-Pacheco, Tiffany Amariuta, Yang Li, Jingbo Shang
arXiv Machine Learning
Jul 2

Explainable AI for Cancer Drug Response Prediction: Beyond Univariate Feature Attributions

arXiv:2607. 00931v1 Announce Type: new Abstract: Predicting cancer drug response from transcriptomic profiles is a cornerstone of precision oncology, yet the scientific value of machine learning models hinges not solely on predictive accuracy, but also on their capacity to generate reliable biological insights.

By Martino Ciaperoni, Margherita Lalli, Simone Piaggesi, Martina Varisco, Francesco Carli, Riccardo Guidotti, Dino Pedreschi, Francesco Raimondi, Fosca Giannotti
arXiv AI
3d ago

WTKO-CNN: Deep Learning Reveals Sequence Motifs Distinguishing Wild-Type and Knockout ATAC-seq Peaks

The study introduces WTKO-CNN, a convolutional neural network with an attention mechanism, to classify DNA sequences as wild‑type (WT) or knockout (KO) based on ATAC‑seq data. By generating saliency maps, the authors pinpointed influential nucleotide positions, extracted high‑saliency k‑mers, and performed de novo motif discovery, producing sequence logos and consensus motifs that align with known transcription factor binding sites. Validation with MEME, TOMTOM, and HOMER confirmed that the identified motifs belong to transcription factor families that differentiate WT from KO sequences.

By Lopamudra Dey
arXiv AI
Sep 15

SeqMaestro: From nucleotide sequences to biological hypotheses through interpretable machine learning

arXiv:2609.14882v1 Announce Type: cross Abstract: Nucleotide sequence analysis is central to problems spanning regulatory genomics, evolutionary biology, and phenotype prediction. Classical bioinform...

By Evgeny S. Saveliev, Krzysztof Kacprzyk, Charlotte Capitanchik, Neelanjan Mukherjee, Kate Matlin, Ryan Sheridan, Srinivas Ramachandran, Jernej Ule, David L. Bentley, Mihaela van der Schaar
arXiv AI
Aug 12

JEPA-DNA: Grounding Genomic Foundation Models through Joint-Embedding Predictive Architectures

arXiv:2602. 17162v3 Announce Type: replace Abstract: Genomic Foundation Models (GFMs) typically rely on Masked Language Modeling (MLM) or Next-Token Prediction (NTP) to learn the "Laws of Nature".

By Ariel Larey, Elay Dahan, Amit Bleiweiss, Raizy Kellerman, Guy Leib, Omri Nayshool, Dan Ofer, Tal Zinger, Dan Dominissini, Gideon Rechavi, Nicole Bussola, Simon Lee, Shane O'Connell, Dung Hoang, Marissa Wirth, Alexander W. Charney, Nati Daniel, Yoli Shavit