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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

[Genomic technologies in medicine].

Hiroyuki Aburatani¹

¹Genome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo.

Nihon Rinsho. Japanese Journal of Clinical Medicine

|June 11, 2009

Summary

This summary is machine-generated.

Genomic analysis reveals links between genetic variations and diseases. Advanced sequencing and data integration are key to personalized medicine and developing biomarkers for early diagnosis and treatment.

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Area of Science:

Genomics
Molecular Biology
Bioinformatics

Context:

Genetic variations like single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) are linked to disease phenotypes.
High-throughput sequencing technologies are advancing the study of genetic and epigenetic mechanisms in human diseases.

Purpose:

To highlight the role of genomic analysis in understanding disease.
To emphasize the potential of sequencing technologies and data integration for personalized medicine.

Summary:

Genomic analysis, including SNPs and CNVs, has established phenotype-genotype associations for diseases.
Advancements in high-throughput sequencing are crucial for understanding genetic and epigenetic disease mechanisms.
Ongoing genome sequencing projects and the integration of genomic and clinical data are foundational for personalized medicine, biomarker development, and improved diagnostics and treatment selection.

Impact:

Facilitates the realization of personalized medicine.
Enables the development of novel biomarkers for early disease detection.
Improves treatment selection through a deeper understanding of individual genetic profiles.