Litcius/Paper detail

Genome sequencing guide: An introductory toolbox to whole‐genome analysis methods

Alexis Burian, Wufan Zhao, Te‐Wen Lo, Deborah Thurtle-Schmidt

2021Biochemistry and Molecular Biology Education21 citationsDOIOpen Access PDF

Abstract

To fully appreciate genetics, one must understand the link between genotype (DNA sequence) and phenotype (observable characteristics). Advances in high-throughput genomic sequencing technologies and applications, so-called "-omics," have made genetic sequencing readily available across fields in biology from applications in non-traditional study organisms to precision medicine. Thus, understanding these tools is critical for any biologist, especially those early in their career. This comprehensive review discusses the chronological development of different sequencing methods, the bioinformatics steps to analyzing this data, and social and ethical issues raised by these techniques that must be discussed and evaluated, including anticipatory guides and discussion questions for active engagement in the classroom. Additionally, the Supporting Information includes a case study to apply technical and ethical concepts from the text.

Topics & Concepts

ToolboxDNA sequencingData scienceComputational biologyPersonal genomicsGenomicsGenomeWhole genome sequencingBiologyComputer scienceGeneticsGeneProgramming languageCRISPR and Genetic EngineeringGenetics, Bioinformatics, and Biomedical ResearchCancer Genomics and Diagnostics