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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing
1febit biomed gmbh, Im Neuenheimer Feld 519, 69120 Heidelberg, Germany. daniel.summerer@febit.de
Genomics
|September 2, 2009
Summary
Targeting specific genomic regions in next-generation sequencing remains a challenge. New sequence enrichment methods, relying on nucleic acid hybridization, aim to reduce costs and improve complex sample analysis.
Area of Science:
- Genomics
- Molecular Biology
- Biotechnology
Background:
- Next-generation sequencing (NGS) potential is limited by difficulties in targeting specific genomic regions.
- Efficient genomic region targeting is crucial for reducing costs and analyzing complex samples.
Purpose of the Study:
- To review and summarize current technologies for genomic-scale sequence enrichment.
- To highlight the characteristics, potential, and application-specific suitability of different enrichment strategies.
Main Methods:
- Review of recently reported approaches for genomic-scale sequence enrichment.
- Analysis of methods based on sequence-specific nucleic acid hybridization.
- Comparison of strategies regarding solid-phase vs. solution-phase hybridization, probe design, and workflow automation.
Main Results:
- Various sequence enrichment technologies exist, primarily utilizing nucleic acid hybridization.
- Key differences lie in hybridization phase, probe design, and workflow automation.
- Several challenges in genome-wide sequence enrichment persist.
Conclusions:
- Overcoming current challenges in genome-wide sequence enrichment is essential for realizing the full potential of NGS.
- Understanding the nuances of different enrichment technologies is vital for selecting appropriate methods for specific applications.
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