An Overview of Molecular Genetic Diagnosis Techniques

Rashmi S Goswami; Shuko Harada

doi:10.1002/cphg.97

An Overview of Molecular Genetic Diagnosis Techniques

Curr Protoc Hum Genet. 2020 Mar;105(1):e97. doi: 10.1002/cphg.97.

Authors

Rashmi S Goswami^{1

2

3}, Shuko Harada⁴

Affiliations

¹ Department of Laboratory Medicine and Molecular Diagnostics, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
² Sunnybrook Research Institute, Biological Sciences, Odette Cancer Research Program, Toronto, Ontario, Canada.
³ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
⁴ Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama.

PMID: 32105409
DOI: 10.1002/cphg.97

Abstract

Our understanding of genetic disease(s) has increased exponentially since the completion of human genome sequencing and the development of numerous techniques to detect genetic variants. These techniques have not only allowed us to diagnose genetic disease, but in so doing, also provide increased understanding of the pathogenesis of these diseases to aid in developing appropriate therapeutic options. Additionally, the advent of next-generation or massively parallel sequencing (NGS/MPS) is increasingly being used in the clinical setting, as it can detect a number of abnormalities from point mutations to chromosomal rearrangements as well as aberrations within the transcriptome. In this article, we will discuss the use of multiple techniques that are used in genetic diagnosis. © 2020 by John Wiley & Sons, Inc.

Keywords: chromosomal structural variants; gene mutations; linkage analysis; next generation sequencing.

MeSH terms

Chromosome Aberrations*
Chromosome Disorders / diagnosis*
Chromosome Disorders / genetics
Genetic Testing / methods*
Genome, Human*
High-Throughput Nucleotide Sequencing / methods*
Humans
Molecular Diagnostic Techniques / methods*
Molecular Diagnostic Techniques / trends
Sequence Analysis, DNA / methods*
Transcriptome