Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

BACKGROUND Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To date, 10 genes have been associated with the disease, making its molecular diagnosis based on Sanger sequencing, expensive and time-consuming. Consequently, the aim of the prese...

Practice guidelines for Targeted Next Generation Sequencing

DNA sequencing is the most commonly used approach for mutation scanning and is widely regarded as the gold standard. Agreed practice guidelines for both the sequencing process and data analysis are important to achieve a high quality approach, with common quality standards across different laboratories. These guidelines do not constitute an experimental protocol or troubleshooting guide, rather...

Targeted Next-Generation Sequencing for Forensic Genomics

Bioruptor® NGS: Unbiased DNA shearing for Next-Generation Sequencing

Wouter Coppieters, PhD, and his colleagues operate the genomics core facility at the GIGA center, University of Liège (Belgium). The center routinely performs a variety of Next-Generation Sequencing (NGS) applications including de novo sequencing, whole genome and amplicon sequencing, and targeted resequencing on an Illumina GAIIx analyzer. Coppieters recognizes that optimal sequencing results ...

Next Generation Sequencing and its Application in the Study of Microbiome in Plant Diseases Suppressive Soils

Progress in next-generation sequencing has played a significant role in ecological studies of microbial populations. These advances have led to a rapid evaluation in metagenomics studies (analysis of DNA of microbial communities without the need to culture). Many statistical and computational tools and metagenomics databases have led to the discovery of huge amounts of data. In this research, i...