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Scientists Thought Parkinson's Was in Our Genes. New ideas about chronic illness could revolutionize treatment, if we take the research seriously. Amy Lindberg spent 26 years in the Navy and she still walked like it--with intention, like her chin had someplace to be. But around 2017, her right foot stopped following orders. Lindberg and her husband Brad were five years into their retirement. After moving 10 times for Uncle Sam, they'd bought their dream house near the North Carolina coast. They had a backyard that spilled out onto wetlands. From the kitchen, you could see cranes hunting. They kept bees and played pickleball and watched their children grow. But now Lindberg's right foot was out of rhythm. She worked hard to ignore it, but she couldn't disregard the tremors.

Science Biology Golden retrievers and humans share'striking' genetic similarities The same genes influence intelligence, anxiety, and depression in both species. Breakthroughs, discoveries, and DIY tips sent every weekday. You're likely not reading too much into your dog's mood: according to researchers at the University of Cambridge, certain genes influencing golden retriever behavior are also traceable to human emotions including intelligence, depression, and anxiety. "The findings are really striking," Eleanor Raffan, a neuroscience researcher and coauthor of a study published in the, said in a statement . "They provide strong evidence that humans and golden retrievers have shared genetic roots for their behavior."

An explosion of high-throughput DNA sequencing in the past decade has led to a surge of interest in population-scale inference with whole-genome data.

Although traditional statistical techniques and machine learning methods have contributed significantly to genetics and, in particular, inherited disease diagnosis, they often struggle with complex, high-dimensional data, a challenge now addressed by state-of-the-art deep learning models. Large language models (LLMs), based on transformer architectures, have excelled in tasks requiring contextual comprehension of unstructured medical data. This systematic review examines the role of LLMs in the genetic research and diagnostics of both rare and common diseases. Automated keyword-based search in PubMed, bioRxiv, medRxiv, and arXiv was conducted, targeting studies on LLM applications in diagnostics and education within genetics and removing irrelevant or outdated models. A total of 172 studies were analyzed, highlighting applications in genomic variant identification, annotation, and interpretation, as well as medical imaging advancements through vision transformers. Key findings indicate that while transformer-based models significantly advance disease and risk stratification, variant interpretation, medical imaging analysis, and report generation, major challenges persist in integrating multimodal data (genomic sequences, imaging, and clinical records) into unified and clinically robust pipelines, facing limitations in generalizability and practical implementation in clinical settings. This review provides a comprehensive classification and assessment of the current capabilities and limitations of LLMs in transforming hereditary disease diagnostics and supporting genetic education, serving as a guide to navigate this rapidly evolving field.

Breakthroughs, discoveries, and DIY tips sent every weekday. The Iditarod is the longest annual sled dog race– covering over 1,500 miles across Alaska. A close look into canine genetics reveals sled dogs have been around and on the move for thousands of years. Specifically, the Greenland sled dog–called Qimmeq (singular), or Qimmit (plural) in Greenlandic–has a history traceable all the way back 9,500 years to Zhokhov Island in Eastern Siberia. And they've been a distinct, isolated group for about 1,000 years of that time.

Identifying causative genes from patient phenotypes remains a significant challenge in precision medicine, with important implications for the diagnosis and treatment of genetic disorders. We propose a novel graph-based approach for predicting causative genes from patient phenotypes, with or without an available list of candidate genes, by integrating a rare disease knowledge graph (KG). Our model, combining graph neural networks and transformers, achieves substantial improvements over the current state-of-the-art. On the real-world MyGene2 dataset, it attains a mean reciprocal rank (MRR) of 24.64\% and nDCG@100 of 33.64\%, surpassing the best baseline (SHEPHERD) at 19.02\% MRR and 30.54\% nDCG@100. We perform extensive ablation studies to validate the contribution of each model component. Notably, the approach generalizes to cases where only phenotypic data are available, addressing key challenges in clinical decision support when genomic information is incomplete.

This study systematically evaluates 27 frontier Large Language Models on eight biology benchmarks spanning molecular biology, genetics, cloning, virology, and biosecurity. Models from major AI developers released between November 2022 and April 2025 were assessed through ten independent runs per benchmark. The findings reveal dramatic improvements in biological capabilities. Top model performance increased more than 4-fold on the challenging text-only subset of the Virology Capabilities Test over the study period, with OpenAI's o3 now performing twice as well as expert virologists. Several models now match or exceed expert-level performance on other challenging benchmarks, including the biology subsets of GPQA and WMDP and LAB-Bench CloningScenarios. Contrary to expectations, chain-of-thought did not substantially improve performance over zero-shot evaluation, while extended reasoning features in o3-mini and Claude 3.7 Sonnet typically improved performance as predicted by inference scaling. Benchmarks such as PubMedQA and the MMLU and WMDP biology subsets exhibited performance plateaus well below 100%, suggesting benchmark saturation and errors in the underlying benchmark data. The analysis highlights the need for more sophisticated evaluation methodologies as AI systems continue to advance.

Discovering the genotype-phenotype relationship is crucial for genetic engineering, which will facilitate advances in fields such as crop breeding, conservation biology, and personalized medicine. Current research usually focuses on single species and small datasets due to limitations in phenotypic data collection, especially for traits that require visual assessments or physical measurements. Deciphering complex and composite phenotypes, such as morphology, from genetic data at scale remains an open question. To break through traditional generic models that rely on simplified assumptions, this paper introduces G2PDiffusion, the first-of-its-kind diffusion model designed for genotype-to-phenotype generation across multiple species. Specifically, we use images to represent morphological phenotypes across species and redefine phenotype prediction as conditional image generation. To this end, this paper introduces an environment-enhanced DNA sequence conditioner and trains a stable diffusion model with a novel alignment method to improve genotype-to-phenotype consistency. Extensive experiments demonstrate that our approach enhances phenotype prediction accuracy across species, capturing subtle genetic variations that contribute to observable traits.

A common task in forensic biology is to interpret and evaluate short tandem repeat DNA profiles. The first step in these interpretations is to assign a number of contributors to the profiles, a task that is most often performed manually by a scientist using their knowledge of DNA profile behaviour. Studies using constructed DNA profiles have shown that as DNA profiles become more complex, and the number of DNA-donating individuals increases, the ability for scientists to assign the target number. There have been a number of machine learning algorithms developed that seek to assign the number of contributors to a DNA profile, however due to practical limitations in being able to generate DNA profiles in a laboratory, the algorithms have been based on summaries of the available information. In this work we develop an analysis pipeline that simulates the electrophoretic signal of an STR profile, allowing virtually unlimited, pre-labelled training material to be generated. We show that by simulating 100 000 profiles and training a number of contributors estimation tool using a deep neural network architecture (in an algorithm named deepNoC) that a high level of performance is achieved (89% for 1 to 10 contributors). The trained network can then have fine-tuning training performed with only a few hundred profiles in order to achieve the same accuracy within a specific laboratory. We also build into deepNoC secondary outputs that provide a level of explainability to a user of algorithm, and show how they can be displayed in an intuitive manner.