Overview of next generation, high-throughput molecular genetic methods

Jonathan J. Rios

doi:10.1007/978-1-4939-2169-0_1

Overview of next generation, high-throughput molecular genetic methods

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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.

Original language	English (US)
Title of host publication	Molecular Genetics of Pediatric Orthopaedic Disorders
Publisher	Springer New York
Pages	1-16
Number of pages	16
ISBN (Electronic)	9781493921690
ISBN (Print)	9781493921683
DOIs	https://doi.org/10.1007/978-1-4939-2169-0_1
State	Published - Jan 1 2015

Keywords

Copy number variation
Exome
Genotyping
Microarray
Next-generation sequencing

ASJC Scopus subject areas

General Medicine
General Biochemistry, Genetics and Molecular Biology

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10.1007/978-1-4939-2169-0_1

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Overview of next generation, high-throughput molecular genetic methods

Abstract

Keywords

ASJC Scopus subject areas

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