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

被引：10

作者：

Burian, Alexis N. ^{[1
]}

Zhao, Wufan ^{[2
]}

Lo, Te-Wen ^{[1
]}

Thurtle-Schmidt, Deborah M. ^{[2
]}

机构：

[1] Ithaca Coll, Dept Biol, Ithaca, NY 14850 USA

[2] Davidson Coll, Dept Biol, Box 7118, Davidson, NC 28035 USA

来源：

BIOCHEMISTRY AND MOLECULAR BIOLOGY EDUCATION | 2021年 / 49卷 / 05期

关键词：

bioinformatics; ethics; genomics; sequencing; MOLECULAR-STRUCTURE; DNA; QUANTIFICATION;

D O I：

10.1002/bmb.21561

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：815 / 825

页数：11

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