Recent advances in genome-wide technologies have revolutionized how researchers identify disease-causing genes. Both microarray-based genotyping analysis for copy number variations and high-throughput next-generation sequencing (NGS) for sequence variations have enabled a surge in the discovery of genes associated with disease. Application of these technologies in large population studies has shown the extent of sequence and copy-number variations throughout the genome and their contributions to human quantitative traits and diseases. This chapter will highlight both technologies and will provide examples of how each has been used to identify genes causing pediatric orthopaedic disorders.
- Copy number variation
- Next-generation sequencing
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)