Next Generation Sequencing (NGS) Identifies an Association Between NPM1 Mutation and Leukemia Cutis

NPM1 mutation is associated with leukemia cutis in acute myeloid leukemia with monocytic features.

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 Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...

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...

Next Generation Sequencing (NGS) Technology in Oncology Drug Development

Overview of NGS technology In the decade since the completion of the human genome project, DNA sequencing technology has changed considerably. The commercial availability of the first massively parallel pyrosequencing platform in 2005 led to a new era of high-throughput genomic analysis, now referred to as next-generation sequencing (NGS). NGS technologies use a fundamentally different approach...