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Methods Mol Biol. 2018;1840:321-336. doi: 10.1007/978-1-4939-8691-0_22.

Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins.

Author information

1
MNG Laboratories, Atlanta, GA, USA. plnagy@mnglabs.com.
2
Department of Medicine and Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Abstract

Targeted panel, whole exome, or whole genome DNA sequencing using next-generation sequencing (NGS) allows for extensive high-throughput investigation of molecular machines/systems such as the LINC complex. This includes the identification of genetic variants in humans that cause disease, as is the case for some genes encoding LINC complex proteins. The relatively low cost and high speed of the sequencing process results in large datasets at various stages of analysis and interpretation. For those not intimately familiar with the process, interpretation of the data might prove challenging. This review lays out the most important and most commonly used materials and methods of NGS. It also discusses data analysis and potential pitfalls one might encounter because of peculiarities of the laboratory methodology or data analysis pipelines.

KEYWORDS:

DNA sequence analysis; DNA sequencing; LINC complex; Mutation; Next-generation sequencing; Polymorphism; Sequence variants

PMID:
30141054
DOI:
10.1007/978-1-4939-8691-0_22
[Indexed for MEDLINE]

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