相关论文: Context-Aware Prediction of Pathogenicity of Misse…

This article proposes a novel approach to statistical alignment of nucleotide sequences by introducing a context dependent structure on the substitution process in the underlying evolutionary model. We propose to estimate alignments and…

Medical AI, including clinical language models, vision-language models, and multimodal health record models, already summarizes notes, answers questions, and supports decisions. Their adaptation to new populations, specialties, or care…

Computational methods are needed to differentiate the small fraction of missense mutations that contribute to disease by disrupting protein function from neutral variants. We describe several complementary methods using large-scale homology…

Modern biomedicine is challenged to predict the effects of genetic variation. Systematic functional assays of point mutants of proteins have provided valuable empirical information, but vast regions of sequence space remain unexplored.…

Context-dependent nature of biological phenomena are well documented in every branch of biology. While there have been few previous attempts to (implicitly) model various facets of biological context-dependence, a formal and general…

Protein-protein bindings play a key role in a variety of fundamental biological processes, and thus predicting the effects of amino acid mutations on protein-protein binding is crucial. To tackle the scarcity of annotated mutation data,…

The observed correlations between pairs of homologous protein sequences are typically explained in terms of a Markovian dynamic of amino acid substitution. This model assumes that every location on the protein sequence has the same…

Proteins have evolved through mutations, amino acid substitutions, since life appeared on Earth, some 109 years ago. The study of these phenomena has been of particular significance because of their impact on protein stability, function,…

There is considerable interest in predicting the pathogenicity of protein variants in human genes. Due to the sparsity of high quality labels, recent approaches turn to \textit{unsupervised} learning, using Multiple Sequence Alignments…

The issue of word sense ambiguity poses a significant challenge in natural language processing due to the scarcity of annotated data to feed machine learning models to face the challenge. Therefore, unsupervised word sense disambiguation…

Proteins are responsible for the most diverse set of functions in biology. The ability to extract information from protein sequences and to predict the effects of mutations is extremely valuable in many domains of biology and medicine.…

We introduce a new predictive mechanism that operates in the presence of hidden confounding across distributionally diverse data sources while ensuring consistent estimation of causal parameters-despite their recognized suboptimality for…

Multiple sequence alignment (MSA) data play a crucial role in the study of protein mutations, with contact prediction being a notable application. Existing methods are often model-based or algorithmic and typically do not incorporate…

Within bioinformatics, the textual alignment of amino acid sequences has long dominated the determination of similarity between proteins, with all that implies for shared structure, function and evolutionary descent. Despite the relative…

We propose a decoding-based approach to detect context effects on neural codes in longitudinal neural recording data. The approach is agnostic to how information is encoded in neural activity, and can control for a variety of possible…

Unsupervised domain adaptation (UDA) aims to adapt a model of the labeled source domain to an unlabeled target domain. Existing UDA-based semantic segmentation approaches always reduce the domain shifts in pixel level, feature level, and…

In this work, we propose an approach for assessing sensitivity to unobserved confounding in studies with multiple outcomes. We demonstrate how prior knowledge unique to the multi-outcome setting can be leveraged to strengthen causal…

Quantifying the effects of amino acid mutations in proteins presents a significant challenge due to the vast combinations of residue sites and amino acid types, making experimental approaches costly and time-consuming. The Potts model has…

A major challenge in estimating treatment effects in observational studies is the reliance on untestable conditions such as the assumption of no unmeasured confounding. In this work, we propose an algorithm that can falsify the assumption…

Detecting and explaining anomalies is a challenging effort. This holds especially true when data exhibits strong dependencies and single measurements need to be assessed and analyzed in their respective context. In this work, we consider…