sequencingbased

Sequencingbased is a broad term used to describe methods and analyses that rely on sequencing data generated from DNA or RNA. It encompasses techniques that measure sequence information directly to profile genomes, transcriptomes, epigenomes, or other nucleic acid features. The term reflects a shift from targeted assays to high-throughput sequencing, which provides comprehensive and scalable insights into biological systems.

Core sequencingbased approaches include DNA sequencing (whole-genome, exome, and targeted panels), RNA sequencing (bulk RNA-seq and single-cell RNA-seq), and various epigenetic sequencing methods such as bisulfite sequencing for DNA methylation, ATAC-seq for chromatin accessibility, and ChIP-seq for histone modifications. In addition, sequencingbased methods are used to study chromatin architecture via technologies like Hi-C, and to profile microbial communities through metagenomic sequencing. Single-cell sequencing-based techniques enable resolution at the level of individual cells.

Applications of sequencingbased methods span discovery of genetic variation and disease-associated mutations, measurement of gene expression, mapping regulatory elements, assessing methylation patterns, metagenomics for ecological and clinical contexts, and cancer genomics for characterizing somatic alterations. In clinical settings, sequencingbased diagnostics rely on panels or whole-genome sequencing to inform prognosis and treatment decisions.

Advantages of sequencingbased approaches include direct measurement of nucleic acids, high throughput, broad dynamic range, and the ability to detect novel features without prior knowledge. Limitations involve cost, data analysis complexity, computational requirements, potential biases from library preparation and sequencing, uneven coverage, and the need for robust reference data. Ethical considerations and data sharing practices are also important in human sequencingbased research.