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Overview of Next Generation, High-Throughput Molecular Genetic Methods

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Molecular Genetics of Pediatric Orthopaedic Disorders

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Abstract

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.

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Author information

Authors and Affiliations

  1. Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, 2222 Welborn Street, 75219, Dallas, TX, USA

    Jonathan J. Rios PhD

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  1. Jonathan J. Rios PhD
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Correspondence to Jonathan J. Rios PhD .

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Editors and Affiliations

  1. Molecular Genetics, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA

    Carol A. Wise

  2. Texas Scottish Rite Hospital for Children, Dallas, Texas, USA

    Jonathan J. Rios

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Rios, J. (2015). Overview of Next Generation, High-Throughput Molecular Genetic Methods. In: Wise, C., Rios, J. (eds) Molecular Genetics of Pediatric Orthopaedic Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2169-0_1

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