Hepatitis C virus infection is a significant global health concern, affecting millions worldwide. Although direct-acting antivirals achieve over 90% success rate, treatment failures still occur, particularly when pan-genotypic DAAs are unavailable, a...
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2025
One of the main challenges in food microbiology is to prevent the risk of outbreaks by avoiding the distribution of food contaminated by bacteria. This requires constant monitoring of the circulating strains throughout the food production chain. Bact...
Identifying the regulatory effects of noncoding variants presents a significant challenge. Recently, the accumulation of epigenomic profiling data in wheat has provided an opportunity to model the functional impacts of these variants. In this study, ...
Recent advancements in high-throughput sequencing technologies have significantly enhanced our ability to unravel the intricacies of gene regulatory processes. A critical challenge in this endeavor is the identification of variant effects, a key fact...
Genome sequencing data have become increasingly important in the field of personalized medicine and diagnosis. However, accurately detecting genomic variations remains a challenging task. Traditional variation detection methods rely on manual inspect...
Machine Learning-based scoring and classification of genetic variants aids the assessment of clinical findings and is employed to prioritize variants in diverse genetic studies and analyses. Combined Annotation-Dependent Depletion (CADD) is one of th...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Jan 1, 2024
We introduce an innovative automated system for the search and assessment of genetic variant evidence, meticulously aligned with ACMG guidelines. Leveraging the synergistic power of artificial intelligence (AI), elastic search, and an extensive knowl...
Synonymous single nucleotide variants (sSNVs) are common in the human genome but are often overlooked. However, sSNVs can have significant biological impact and may lead to disease. Existing computational methods for evaluating the effect of sSNVs su...
Understanding the functional consequence of noncoding variants is of great interest. Though genome-wide association studies or quantitative trait locus analyses have identified variants associated with traits or molecular phenotypes, most of them are...
Several studies to date have proposed different types of interpreters for measuring the degree of pathogenicity of variants. However, in predicting the disease type and disease-gene associations, scholars face two essential challenges, namely the vas...
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