Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...
Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model–Based Prediction An economic model was developed to estimate the ...
Understanding Bioinformatics Workflows for NGS Analysis: Case Study with Whole-exome Sequencing Data
NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...
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