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Lorbeer, F. K.

Publications and source records attributed to Lorbeer, F. K..

3 recordsLinked to original sources

A foundational model for joint sequence-function multi-species modeling at scale for long-range genomic prediction

Genomic prediction and design require models that integrate local sequence features with long-range regulatory dependencies spanning hundreds of kilobases to megabases. Existing approaches have made substantial progress along complementary axes: supervised sequence-to-function models achieve high accuracy for specific assays and organisms, self-supervised genomic foundation models learn transferable representations from large-scale sequence data, and conditional generative models enable principled sequence design guided by functional objectives. However, these strengths are typically realized in isolation--across distinct model classes, architectures, and training regimes--limiting the ability to combine long-context, base-resolution prediction, functional modeling, and controllable generation within a single efficient framework that generalizes across organisms and modalities. Here we introduce Nucleotide Transformer v3 (NTv3), a multi-species foundation model that unifies representation learning, functional-track and genome-annotation prediction, and controllable sequence generation within a common backbone. NTv3 uses a U-Net-like architecture to enable single-base tokenization and efficient modeling of contexts up to 1 Mb. We pre-train NTv3 on 9 trillion base pairs from OpenGenome2 using base-resolution masked language modeling, followed by post-training with a joint objective that integrates continued self-supervision with supervised learning on [~]16,000 functional tracks and annotation labels from 24 animal and plant species. After post-training, NTv3 achieves state-of-the-art accuracy for functional-track prediction and genome annotation across species, outperforming leading sequence-to-function and foundation-model baselines on established benchmarks and on the new NO_SCPLOWTVC_SCPLOW 3 BO_SCPLOWENCHMARKC_SCPLOW, a controlled downstream fine-tuning suite in a standardized 32 kb input / base-resolution output setting. We further show that NTv3 consolidates a shared regulatory grammar across tasks, enabling coherent long-range genome-to-function inference and variant-associated remodeling. Finally, we fine-tune NTv3 into a controllable generative model via masked diffusion language modeling and use it to design enhancer sequences with specified activity levels and promoter selectivity. We validate these designs experimentally, showing that generated enhancers recapitulate the intended activity stratification and achieve the desired promoter-specific activation in cellulo. We release the NTv3 model family together with code and practical cookbooks for long-context training, multispecies post-training, fine-tuning, interpretation, and sequence design.

genomics↗

Programmatic design and editing of cis-regulatory elements

The development of modern genome editing and DNA synthesis has enabled researchers to edit DNA sequences with high precision but has left unsolved the problem of designing these edits. We introduce Ledidi, a computational method that rephrases the discrete design task of choosing which edits to make as an easily solvable continuous optimization problem. Ledidi can use any pre-trained deep learning model to guide the optimization, yielding an edited sequence that exhibits the desired outcome while explicitly minimizing the number of edits used. When applied in dozens of settings, we find that Ledidis designs can precisely control transcription factor binding, chromatin accessibility, transcription, and enhancer activity in silico. By using several deep learning models simultaneously, we design cell type-specific enhancers and experimentally validate them in cellulo. Finally, we introduce the concept of an "affinity catalog", where the design task is repeated multiple times across continuous variants of the design target. We demonstrate how these catalogs can be used to interpret deep learning models and the impact of starting template sequences, and also to design regulatory elements that control transcriptional dosage while maintaining cell type-specificity.

bioinformatics↗

Distinct senescence mechanisms restrain progression of dysplastic nevi

TERT promoter mutations (TPMs) are frequently found in different cancer types, including approximately 70% of sun-exposed skin melanomas. In melanoma, TPMs are among the earliest mutations and can be present during the transition from nevus to melanoma. However, the specific factors that contribute to the selection of TPMs in certain nevi subsets are not well understood. To investigate this, we analyzed a group of dysplastic nevi (DN) by sequencing genes commonly mutated in melanocytic neoplasms. We examined the relationship between the identified mutations, patient age, telomere length, histological features, and the expression of p16. Our findings reveal that TPMs are more prevalent in DN from older patients and are associated with shorter telomeres. Importantly, these TPMs were not found in nevi with BRAF V600E mutations. Conversely, DN with BRAF V600E mutations were observed in younger patients, had longer telomeres, and a higher proportion of p16-positive cells. This suggests that these nevi arrest growth independently of telomere shortening through a mechanism known as oncogene-induced senescence (OIS). These characteristics extend to melanoma sequencing data sets, where melanomas with BRAF V600E mutations were more likely to have CDKN2A inactivation, overriding OIS. In contrast, melanomas without BRAF V600E mutations showed a higher frequency of TPMs. Our data imply that TPMs are selected to bypass replicative senescence (RS) in cells that were not arrested by OIS. Overall, our results indicate that a subset of melanocytic neoplasms face constraints from RS, while others encounter OIS and RS. The order in which these barriers are overcome during progression to melanoma depends on the mutational context.

cancer biology↗