Application of next generation sequencing to molecular diagnosis of inherited diseases

Topics in Current Chemistry
Wei ZhangLee-Jun C Wong

Abstract

Recent development of high throughput, massively parallel sequencing (MPS or next generation sequencing, NGS) technology has revolutionized the molecular diagnosis of human genetic disease. The ability to generate enormous amount of sequence data in a short time at an affordable cost makes this approach ideal for a wide range of applications from sequencing a group of candidate genes, all coding regions (known as exome sequencing) to the entire human genome. The technology brings about an unprecedented application to the identification of the molecular basis of hard-to-diagnose genetic disorders. This chapter reviews the up-to-date published application of next generation sequencing in clinical molecular diagnostic laboratories. We also emphasize the various target gene enrichment methods and their advantages and shortcomings. Obstacles to compliance with regulatory authorities like CLIA/CAP in clinical settings are also briefly discussed.

Citations

Jul 18, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yanming FengLee-Jun C Wong
May 29, 2018·Biomédica : revista del Instituto Nacional de Salud·Carolina MantillaAndrés Augusto Arias
Dec 28, 2012·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Lee-Jun C Wong
Jan 24, 2013·Molecular Systems Biology·Wendy Weijia SoonMichael P Snyder
Mar 9, 2020·Molecular Genetics and Genomics : MGG·Paul J DunnLyn R Griffiths
Oct 5, 2012·Journal of Human Genetics·Yoshinori TsurusakiNoriko Miyake
Dec 28, 2012·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Elizabeth McCormickMarni J Falk
Jun 1, 2016·PloS One·Dèlia YuberoUNKNOWN Working Group
Apr 10, 2013·Human Mutation·Birgit Sikkema-RaddatzRichard J Sinke

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
Vincenzo Nigro, Giulio Piluso
Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics
Lee-Jun C Wong
Human Molecular Genetics
Jamie K Teer, James C Mullikin
© 2021 Meta ULC. All rights reserved