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Updated: Apr 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Choice of next-generation sequencing pipelines
F Del Chierico1, M Ancora, M Marcacci
1Unit of Parasitology & Unit of Metagenomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Next-generation sequencing (NGS) offers advanced genetic analysis, enabling comprehensive genome and transcriptome studies. These powerful tools are revolutionizing biological research by improving accuracy and overcoming previous technical limitations.
Area of Science:
- Genetics and Genomics
- Bioinformatics
- Molecular Biology
Background:
- Next-generation sequencing (NGS) technologies have significantly advanced genetic research in the 21st century.
- NGS is poised to replace existing high-throughput technologies due to its ability to generate vast amounts of sequence data.
- NGS applications are crucial for decoding biological systems, including genome anatomy, gene mapping, and transcriptome analysis.
Purpose of the Study:
- To discuss the management of successful next-generation sequencing (NGS) pipelines.
- To cover project planning, platform selection, and data analysis management for NGS.
- To highlight the impact of NGS on genetic decoding and genome-wide studies.
Main Methods:
- De-novo genomic sequencing (mate-paired and whole-genome shotgun strategies).
- Targeted gene sequencing for large bacterial communities.
- RNA-sequencing (RNA-seq) methods, including whole transcriptome sequencing and Serial Analysis of Gene Expression (Sage-analysis).
Main Results:
- NGS protocols overcome technical issues like mapping specificity and enable detection of structural variations.
- Advanced NGS methods improve gene annotation and bridge sequencing gaps.
- NGS pipelines are fundamental for genome-wide fields such as metagenomics.
Conclusions:
- NGS technologies are indispensable tools for modern genetic and genomic research.
- Effective management of NGS pipelines, from planning to data analysis, is critical for successful outcomes.
- NGS continues to drive significant advances in understanding biological systems at a genomic level.
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