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Genomics

DNA sequencing and analysis tools for personalized medicine and diagnostics

Fig. 131 · Pea plant

The field

At a glance

Definition

DNA sequencing and analysis tools for personalized medicine and diagnostics

Technologies

Next-generation sequencing reads billions of DNA fragments in parallel. Single-cell genomics profiles individual cells within tissues. Spatial transcriptomics maps gene expression to tissue location. CRISPR diagnostics enable rapid, specific genetic detection. AI identifies disease-associated variants from population-scale genomic data.

Applications

Cancer genomic profiling guides therapy selection based on tumor mutations. Prenatal testing screens for chromosomal abnormalities. Pharmacogenomic testing identifies optimal drug choices. Rare disease diagnosis through whole genome sequencing. Population health studies identify genetic risk factors across millions of people.

Market and funding

The genomics market encompasses sequencing, analysis, and clinical applications of genetic data. With 6 funders. Whole genome sequencing costs have fallen below $200, enabling population-scale genomic medicine.

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