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High-Throughput Nucleotide Sequencing

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Deciphering the microbial landscape of lower respiratory tract infections: insights from metagenomics and machine learning.

Frontiers in cellular and infection microbiology
BACKGROUND: Lower respiratory tract infections represent prevalent ailments. Nonetheless, current comprehension of the microbial ecosystems within the lower respiratory tract remains incomplete and necessitates further comprehensive assessment. Lever...

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

PloS one
BACKGROUND: Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these variants, American College of Medical Genetics and Genomics and the Asso...

A comprehensive computational benchmark for evaluating deep learning-based protein function prediction approaches.

Briefings in bioinformatics
Proteins play an important role in life activities and are the basic units for performing functions. Accurately annotating functions to proteins is crucial for understanding the intricate mechanisms of life and developing effective treatments for com...

[CHARACTERIZATION OF THE ADAPTIVE IMMUNE REPERTOIRE USING NEXT GENERATION SEQUENCING: RECENT DISCOVERIES IN THE FIELD OF PRIMARY IMMUNODEFICIENCY, AND THE UPCOMING FUTURE].

Harefuah
A powerful adaptive immune system, which includes cellular (T lymphocytes) and humoral (B lymphocytes) immunity, depends on its ability to recognize and protect against millions of different foreign antigens. It does so through an enormous diverse ar...

NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data.

Bioinformatics (Oxford, England)
MOTIVATION: Structural variants (SVs) play a causal role in numerous diseases but can be difficult to detect and accurately genotype (determine zygosity) with short-read genome sequencing data (SRS). Improving SV genotyping accuracy in SRS data, part...

Prediction and causal inference of hyperuricemia using gut microbiota.

Scientific reports
Hyperuricemia (HUA) is a symptom of high blood uric acid (UA) levels, which causes disorders such as gout and renal urinary calculus. Prolonged HUA is often associated with hypertension, atherosclerosis, diabetes mellitus, and chronic kidney disease....

Automating the Illumina DNA library preparation kit for whole genome sequencing applications on the flowbot ONE liquid handler robot.

Scientific reports
Whole-genome sequencing (WGS) is currently making its transition from research tool into routine (clinical) diagnostic practice. The workflow for WGS includes the highly labor-intensive library preparations (LP), one of the most critical steps in the...

Application and Comparison of Machine Learning and Database-Based Methods in Taxonomic Classification of High-Throughput Sequencing Data.

Genome biology and evolution
The advent of high-throughput sequencing technologies has not only revolutionized the field of bioinformatics but has also heightened the demand for efficient taxonomic classification. Despite technological advancements, efficiently processing and an...

ARGNet: using deep neural networks for robust identification and classification of antibiotic resistance genes from sequences.

Microbiome
BACKGROUND: Emergence of antibiotic resistance in bacteria is an important threat to global health. Antibiotic resistance genes (ARGs) are some of the key components to define bacterial resistance and their spread in different environments. Identific...

NmTHC: a hybrid error correction method based on a generative neural machine translation model with transfer learning.

BMC genomics
BACKGROUNDS: The single-pass long reads generated by third-generation sequencing technology exhibit a higher error rate. However, the circular consensus sequencing (CCS) produces shorter reads. Thus, it is effective to manage the error rate of long r...