TY - JOUR UR - https://doi.org/10.7287/peerj.preprints.147v1 DO - 10.7287/peerj.preprints.147v1 TI - Genome-wide approaches and technologies to assess human variation AU - Gonzaga-Jauregui,Claudia DA - 2013/12/09 PY - 2013 KW - next-generation sequencing KW - human genomics KW - human variation KW - array comparative genomic hybridization KW - structural variation KW - genotyping AB - 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. VL - 1 SP - e147v1 T2 - PeerJ PrePrints JO - PeerJ PrePrints J2 - PeerJ PrePrints SN - 2167-9843 ER -