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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

Applications of second generation sequencing technologies in complex disorders.

Mònica Bayés¹, Simon Heath, Ivo Glynne Gut

¹Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain, mbayes@pcb.ub.es.

Current Topics in Behavioral Neurosciences

|February 15, 2012

Summary

Second generation sequencing (2ndGS) rapidly generates vast amounts of DNA sequence data for genomics research. While powerful, this high-throughput sequencing presents challenges in data analysis and interpretation.

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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

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Area of Science:

Genomics and Bioinformatics
Molecular Biology

Background:

Second generation sequencing (2ndGS) technologies have revolutionized the speed and cost of DNA sequencing.
These methods enable rapid generation of millions of short DNA sequence reads from amplified single fragments.

Purpose of the Study:

To highlight the capabilities and applications of 2ndGS technologies in biomedical research.
To address the challenges associated with the large-scale data generated by 2ndGS.

Main Methods:

Iterative cycles of nucleotide extensions on amplified single DNA fragments.
High-throughput sequencing generating millions of short reads.

Main Results:

Completion of human genome sequencing within weeks.
Widespread adoption of 2ndGS in diverse biomedical applications.
Ongoing development towards faster and cheaper sequencing technologies.

Conclusions:

2ndGS technologies are profoundly impacting biomedical research, enabling applications like whole-genome sequencing and transcriptome analysis.
Effective data interpretation, analysis, and management are crucial for leveraging 2ndGS data.
Future advancements promise even more accessible and rapid whole human genome sequencing.