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Am J Epidemiol. 2017 Oct 15;186(8):1000-1009. doi: 10.1093/aje/kww224.

Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis.

Abstract

Most human diseases have underlying genetic causes. To better understand the impact of genes on disease and its implications for medicine and public health, researchers have pursued methods for determining the sequences of individual genes, then all genes, and now complete human genomes. Massively parallel high-throughput sequencing technology, where DNA is sheared into smaller pieces, sequenced, and then computationally reordered and analyzed, enables fast and affordable sequencing of full human genomes. As the price of sequencing continues to decline, more and more individuals are having their genomes sequenced. This may facilitate better population-level disease subtyping and characterization, as well as individual-level diagnosis and personalized treatment and prevention plans. In this review, we describe several massively parallel high-throughput DNA sequencing technologies and their associated strengths, limitations, and error modes, with a focus on applications in epidemiologic research and precision medicine. We detail the methods used to computationally process and interpret sequence data to inform medical or preventative action.

KEYWORDS:

DNA sequence analysis; DNA sequencing; genetics; genomics; high-throughput sequencing; next-generation sequencing; sequencing technologies

PMID:
29040395
PMCID:
PMC6250075
DOI:
10.1093/aje/kww224
[Indexed for MEDLINE]
Free PMC Article

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