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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Understanding genetic variation and function- the applications of next generation sequencing.
1East Malling Research, New Road, East Malling, Kent, ME19 6BJ, United Kingdom. richard.harrison@emr.ac.uk
Seminars in Cell & Developmental Biology
|January 31, 2012
Summary
Next generation sequencing (NGS) enables researchers to study genetic variation and gene function in populations. This review highlights NGS applications in identifying genetic selection and variation, advancing population genetics and functional genomics.
Area of Science:
- Genomics and Population Genetics
- Molecular Biology and Genetics
Background:
- Next-generation sequencing (NGS) has revolutionized population-level studies by linking genetic variation to gene function.
- Understanding genetic variation is crucial for identifying loci under selection and characterizing the full spectrum of genetic variation within populations.
Purpose of the Study:
- To review recent advances in using genome scanning and population genetic approaches with NGS data.
- To explore the application of NGS in detecting deleterious, neutral, and advantageous genetic variation.
- To examine how NGS facilitates gene function studies, population sequencing, QTL mapping, and targeted capture methodologies.
Main Methods:
- Genome scanning and population genetic analyses of large NGS datasets.
- Analysis of standing genetic variation, including deleterious, neutral, and advantageous alleles.
- Integration of sequencing data with quantitative trait loci (QTL) mapping and targeted capture techniques.
Main Results:
- NGS facilitates the identification of loci under recent selection in populations.
- Large NGS datasets enable comprehensive detection of various types of genetic variation.
- Advances in sequencing populations under selection and QTL mapping are highlighted.
Conclusions:
- NGS is a powerful tool for advancing population genetics and functional genomics research.
- The integration of NGS with diverse methodologies enhances our understanding of genetic variation and adaptation.
- Future research directions include refining NGS-based approaches for complex trait dissection and evolutionary studies.
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