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

• Published in: Biochemistry and molecular biology education Vol. 49; no. 5; pp. 815 - 825
• Main Authors: Burian, Alexis N., Zhao, Wufan, Lo, Te‐Wen, Thurtle‐Schmidt, Deborah M.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.09.2021; Wiley; Wiley Subscription Services, Inc
• Subjects: Base Sequence; Bioinformatics; Biology; Case Studies; Computational Biology; Data Analysis; DNA sequencing; Ethics; Genetics; Genome; Genomes; Genomics; Genotypes; Guides; High-Throughput Nucleotide Sequencing; Medicine; Nucleotide sequence; Phenotypes; Precision medicine; Science Instruction; Scientific Research; Sequence Analysis, DNA; sequencing; Social Problems; Statistical Analysis; Teaching Methods; Topical Review; genomics; ethics; bioinformatics; sequencing
• ISSN: 1470-8175; 1539-3429
• DOI: 10.1002/bmb.21561

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.