Overview of Genotyping Technologies and Methods

Abstract

Genetics is a cornerstone of molecular biology, and there have been significant developments in genotyping technologies during the last decades. Genotyping can be used for a wide range of applications, such as genealogy, assessing risks and causes for common diseases and health conditions, animal and human research, and forensic investigations. So how do you perform a genetic study? This overview covers key concepts in genetics, the development of common genotyping methods, and a comparison of several techniques, including PCR, microarrays, and sequencing. A general process of the steps involved in genotyping, from DNA preparation to quality control, is described with relevant protocols referenced. Different types of DNA variants are illustrated, including mutations, SNP, insertions, deletions, microsatellites, and copy number variations, with examples of their involvement in disease. We discuss the utilities of genotyping, such as medical genetics, genome‐wide association studies (GWAS), and forensic science. We also provide tips for quality control, analysis, and results interpretation to help the reader design and perform a genetic study or scrutinize such studies from the literature. © 2023 The Authors. Current Protocols published by Wiley Periodicals LLC.

Recovering Misidentified Samples Through Genetic Discordance Clustering

“…This is a crucial process for minimizing potential biases and errors that may affect the accuracy and reliability of genetic associations. These standard protocols have been detailed extensively elsewhere (Anderson et al, 2010;Hunter-Zinck et al, 2020;Kockum et al, 2023;Turner et al, 2011); however, we have provided a brief overview of the standard procedures for assessing genotype data and a summary of the overall process in Figure 1.…”

Designing and evaluating a cost‐effective single nucleotide polymorphism liquid array for Chinese native chickens

“…Reduced-representation genome sequencing (RRGS) is a more cost-effective approach, but has an uneven representation of genomic regions. Other sequencingbased genotyping approaches include targeted sequencing and genotyping by sequencing, each with specific strengths and weaknesses depending on the specific research question, resources, and goals [3].…”