Abstract
The decreasing cost along with rapid progress in next-generation sequencing and related bioinformatics computing resources has facilitated large-scale discovery of SNPs in various model and nonmodel plant species. Large numbers and genome-wide availability of SNPs make them the marker of choice in partially or completely sequenced genomes. Although excellent reviews have been published on next-generation sequencing, its associated bioinformatics challenges, and the applications of SNPs in genetic studies, a comprehensive review connecting these three intertwined research areas is needed. This paper touches upon various aspects of SNP discovery, highlighting key points in availability and selection of appropriate sequencing platforms, bioinformatics pipelines, SNP filtering criteria, and applications of SNPs in genetic analyses. The use of next-generation sequencing methodologies in many non-model crops leading to discovery and implementation of SNPs in various genetic studies is discussed. Development and improvement of bioinformatics software that are open source and freely available have accelerated the SNP discovery while reducing the associated cost. Key considerations for SNP filtering and associated pipelines are discussed in specific topics. A list of commonly used software and their sources is compiled for easy access and reference.
Highlights
Molecular markers are widely used in plant genetic research and breeding
SNPs have been applied in areas as diverse as human forensics [2] and diagnostics [3], aquaculture [4], marker assisted-breeding of dairy cattle [5], crop improvement [6], conservation [7], and resource management in fisheries [8]
Direct RNA sequencing (DRS) developed by Helicos Biosciences Corporation is a high throughput and cost-effective method which eliminates the need for cDNA synthesis and ligation/amplification leading to improved accuracy [52]
Summary
Molecular markers are widely used in plant genetic research and breeding. Single Nucleotide Polymorphisms (SNPs) are currently the marker of choice due to their large numbers in virtually all populations of individuals. Until recently large scale SNP discovery in plants was limited to maize, Arabidopsis, and rice [11,12,13,14,15]. Genetic applications such as linkage mapping, population structure, association studies, map-based cloning, marker-assisted plant breeding, and functional genomics continue to be enabled by access to large collections of SNPs. Arabidopsis thaliana was the first plant genome sequenced [16] followed soon after by rice [17, 18]. With the ever increasing throughput of next-generation sequencing (NGS), de novo and reference-based SNP discovery and application are feasible for numerous plant species. This book chapter focuses on the a priori discovery of SNPs through NGS, bioinformatics tools and resources, and the various downstream applications of SNPs
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
