Application of Next Generation Sequencing Upon the Molecular Genetic Diagnosis of Deafness
نویسندگان
چکیده
The main objective of this review is to describe the new sequencing technologies called next generation sequencing (NGS) and its utility as a molecular genetic diagnosis tool in a medical field. Sanger method has dominated the genome sequencing industry for the past 30 years since its invention in 1975. It produced first human genome and still remains the gold standard for genome sequencing. However, it cannot meet the needs for enormous genetic data gathering and process because of its relatively long sequencing time and high cost per sample. NGS which parallelise the sequencing process, thereby increasing processing speed at a reduced cost per sample emerged to compensate for the weakness of the previous method. Currently NGS is used in some medical areas and its use is being widened. NGS also plays an important role in a study of genetically heterogenous hearing diseases. NGS is expected to mark a significant milestone in genomic research filed in a near future.
منابع مشابه
Strategies and Clinical Applications of Next Generation Sequencing
Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput sequencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...
متن کاملGenome Wide Association Studies, Next Generation Sequencing and Their Application in Animal Breeding and Genetics: A Review
Recently genetic studies have been revolutionized by next generation sequencing (NGS) technology, and it is expected that the use of this technology will largely eliminate defects in the methods of association studies. The NGS technology is becoming the premier tool in genetics. However, at the moment the use of this method is limited especially in the livestock due to high cost and computation...
متن کاملStrategies and Clinical Applications of Next Generation Sequencing
Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput sequencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...
متن کاملIdentification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
متن کاملEditorial: The Post-Exome Era
The Iranian Rehabilitation Journal (IRJ) invites research papers on the genetic basis of single gene and complex disorders. This vastly dynamic branch of science will complement the multidisciplinary wealth of expertise in the fields of social welfare and rehabilitation. The past few years have witnessed outstanding research projects on the genetic causes of numerous debilitating disorders, suc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 16 شماره
صفحات -
تاریخ انتشار 2012