Related papers: GREGoR: Accelerating Genomics for Rare Diseases
Rare diseases affect millions worldwide but often face limited research focus due to their low prevalence. This results in prolonged diagnoses and a lack of approved therapies. Recent advancements in Large Language Models (LLMs) have shown…
Genotyping errors are known to influence the power of both family-based and case-control studies in the genetics of complex disease. Estimating genotyping error rate in a given dataset can be complex, but when family information is…
Modeling disease progression through multiple stages is critical for clinical decision-making for chronic diseases, e.g., cancer, diabetes, chronic kidney diseases, and so on. Existing approaches often model the disease progression as a…
The immense increase in the generation of genomic scale data poses an unmet analytical challenge, due to a lack of established methodology with the required flexibility and power. We propose a first principled approach to statistical…
Rare diseases are very difficult to identify among large number of other possible diagnoses. Better availability of patient data and improvement in machine learning algorithms empower us to tackle this problem computationally. In this…
The Genographic Project is an international effort using genetic data to chart human migratory history. The project is non-profit and non-medical, and through its Legacy Fund supports locally led efforts to preserve indigenous and…
Recent advances in DNA sequencing technologies have put ubiquitous availability of fully sequenced human genomes within reach. It is no longer hard to imagine the day when everyone will have the means to obtain and store one's own DNA…
A system level view of cellular processes for human and several organisms can be cap- tured by analyzing molecular interaction networks. A molecular interaction network formed of differentially expressed genes and their interactions helps…
Background: Several studies show that large language models (LLMs) struggle with phenotype-driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models like GPT…
Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…
While artificial intelligence (AI) has become widespread, many commercial AI systems are not yet accessible to individual researchers nor the general public due to the deep knowledge of the systems required to use them. We believe that AI…
Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…
This study presents a novel approach at the intersection of genomic analysis and artificial intelligence (AI) to predict viral mutations and assess the risks of future pandemics. Through comprehensive genomic analysis, genetic markers…
According to the World Health Organization, the rate of people aged 60 or more is growing faster than any other age group in almost every country, and this trend is not going to change in a near future. Since senior citizens are at high…
Genome-wide association studies(GWAS) have proven to be highly useful in revealing the genetic basis of complex diseases. At present, most GWAS are studies of a particular single disease diagnosis against controls. However, in practice, an…
Genealogy research is the study of family history using available resources such as historical records. Ancestry provides its customers with one of the world's largest online genealogical index with billions of records from a wide range of…
Rare diseases often manifest with distinctive facial phenotypes in children, offering valuable diagnostic cues for clinicians and AI-assisted screening systems. However, progress in this field is severely limited by the scarcity of curated,…
Medication recommendation systems have gained significant attention in healthcare as a means of providing tailored and effective drug combinations based on patients' clinical information. However, existing approaches often suffer from…
Rare disease diagnosis requires matching variant-bearing genes to complex patient phenotypes across large and heterogeneous evidence sources. This process remains time-intensive in current clinical interpretation pipelines. To overcome…
Rare diseases affect over 300 million people worldwide and are characterized by complex care pathways, limited clinical expertise, and substantial unmet communication needs throughout the long patient journey. Recent advances in large…