Genome-wide approaches and technologies to assess human variation

1 Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA
2 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
DOI
10.7287/peerj.preprints.147v1
Published
Accepted
Subject Areas
Bioinformatics, Genomics
Keywords
next-generation sequencing, human genomics, human variation, array comparative genomic hybridization, structural variation, genotyping
Copyright
© 2013 Gonzaga-Jauregui
Licence
This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Cite this article
Gonzaga-Jauregui C. 2013. Genome-wide approaches and technologies to assess human variation. PeerJ PrePrints 1:e147v1

Abstract

Current genome-wide technologies allow interrogation and exploration of the human genome as never before. Next-generation sequencing (NGS) technologies, along with high resolution Single Nucleotide Polymorphisms (SNP) arrays and array Comparative Genomic Hybrization (aCGH) enable assessment of human genome variation at the finest resolution from base pair changes such as simple nucleotide variants (SNVs) to large copy-number variants (CNVs). The application of these genomic technologies in the clinical setting has also enabled the molecular characterization of genetic disorders and the understanding of the biological functions of more genes in human development, disease, and health. In this review, the current approaches and platforms available for high-throughput human genome analyses, the steps involved in these different methodologies from sample preparation to data analysis, their applications, and limitations are summarized and discussed.