Abstract
BackgroundAdvances in the understanding of complex trait genetics have always been enabled by advances in genomic technology. Next-generation sequencing (NGS) is set to revolutionize the way complex trait genetics research is carried out.ResultsNGS has multiple applications in the field of human genetics, but is accompanied by substantial study design, analysis and interpretation challenges. This review discusses key aspects of study design considerations, data handling issues and required analytical developments. We also highlight early successes in mapping genetic traits using NGS.ConclusionNGS opens the entire spectrum of genomic alterations for the genetic analysis of complex traits and there are early publications illustrating its power. Continuing development in analytical tools will allow the promise of NGS to be realized.
Highlights
Advances in the understanding of complex trait genetics have always been enabled by advances in genomic technology
Computational challenges associated with this task include handling the sheer number of reads, dealing with nonunique mapping and variation in base quality, and have required algorithm development to produce efficient programs for mapping Next-generation sequencing (NGS) reads to the reference genome [17,18,19,20,21,22,23]
Variant calling and genotyping The discovery and genotyping of sequence variants represents the cornerstone of NGS data use in complex trait genetic association studies
Summary
Advances in the understanding of complex trait genetics have always been enabled by advances in genomic technology. Keywords Complex traits, gene mapping, genetics, next-generation sequencing, study design. The most widely used application of NGS in complex trait genetic studies involves SNP discovery and genotyping.
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