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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The effect of next-generation sequencing technology on complex trait research
Aaron G Day-Williams1, Eleftheria Zeggini
1Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
European Journal of Clinical Investigation
|December 16, 2010
Summary
Next-generation sequencing (NGS) revolutionizes complex trait genetics research by enabling analysis of all genomic alterations. Continued development of analytical tools will further unlock the potential of NGS for human genetics.
Area of Science:
- Genomics
- Human Genetics
- Complex Trait Genetics
Background:
- Genomic technology advances drive complex trait genetics understanding.
- Next-generation sequencing (NGS) is poised to transform complex trait genetics research.
Purpose of the Study:
- To review the applications of NGS in human genetics.
- To discuss challenges and considerations for NGS implementation in complex trait genetics.
- To highlight early successes and future directions for NGS in genetic trait mapping.
Main Methods:
- Review of current literature on Next-generation sequencing applications in human genetics.
- Discussion of study design, data handling, and analytical development needs for NGS.
- Examination of early case studies demonstrating NGS capabilities.
Main Results:
- NGS offers broad applications in human genetics research.
- Significant challenges exist in study design, data analysis, and interpretation for NGS studies.
- Early research shows promise in mapping genetic traits using NGS.
Conclusions:
- NGS expands the scope of genomic alterations available for complex trait genetic analysis.
- Early studies demonstrate the power of NGS in uncovering genetic influences on complex traits.
- Advancements in analytical tools are crucial for realizing the full potential of NGS in genetics.
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