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.
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AlphaGenome Atlas is a comprehensive resource that maps the molecular effects of 9 billion single‑letter DNA variants across the human genome. It provides a predictive map of how every possible DNA letter change could influence biological function. The atlas offers researchers a detailed view of variant impacts at an unprecedented scale.
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.
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.
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.
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.
arXiv:2609.14882v1 Announce Type: cross Abstract: Nucleotide sequence analysis is central to problems spanning regulatory genomics, evolutionary biology, and phenotype prediction. Classical bioinform...
