An Overview of Molecular Genetic Diagnosis Techniques.

An Overview of Molecular Genetic Diagnosis Techniques.
Curr Protoc Hum Genet. 2020 Mar;105(1):e97
Authors: Goswami RS, Harada S
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.
PMID: 32105409 [PubMed - as supplied by publisher]

Source: Current Protocols in Human Genetics - February 28, 2020 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research