Rigor and Reproducibility in Genetics and Genomics

Rigor and Reproducibility in Genetics and Genomics: Peer-reviewed, Published, Cited provides a full methodological and statistical overview for researchers, clinicians, students (undergraduate through graduate), and post-doctoral fellows conducting genetic and genomic research. Herein, active geneticists, clinicians, and bioinformaticians offer practical solutions and key considerations for a variety of challenges associated with modern approaches in genetics and genomics, including genotyping, variant calling, next-generation sequencing, gene expression analysis, epigenetic analysis, and gene editing technologies. Emphasis upon rigorous and reproducible methods is a consistent theme, with each section containing laboratory case-studies and classroom activities covering step-by-step protocols, best practices, and common pitfalls. Specific genetic and genomic approaches and technologies discussed include microarray analysis, DNA sequencing and polygenic risk scoring, RNA-seq, ATAC-seq, ChIP-Seq, and CRISPR gene editing. Included are training exercises, supporting data, and in-depth discussions of rigor, reproducibility, and ethics in research, which together deliver a strong starting foundation in research standards for the next generation of genetic and genomic scientists.