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...

In this paper, we advocate high-level programming methodology for next generation sequencers (NGS) alignment tools for both productivity and absolute performance. We analyse the problem of parallel alignment and review the parallelisation strategies of the most popular alignment tools, which can all be abstracted to a single parallel paradigm. We compare these tools to their porting onto the Fa...

Background: Given high rates of positive Cutibacterium acnes (C. acnes) cultures in cases of both primary and revisionshoulder surgery, the ramifications of positive C. acnes cultures remain uncertain. Next generation sequencing (NGS)is a molecular tool that sequences the whole bacterial genome and is capable of identifying pathogens and the relativepercent abundance in which ...

Sample Tumor Type C.1 (low/high) C.2 (anapl/non-anapl) C.3 (gliob/non-gliob) C.4 (glios/non-glios) T19 Oligodendroglioma l n ngb ngs T21 Anaplastic mixed glioma l a ngb ngs T24 Anaplastic mixed glioma l a ngb ngs T18 Glioblastoma/Gliosarcoma h n ngb/gb ngs/gs T20 Glioblastoma h n gb ngs T22 Glioblastoma h n gb ngs T23 Glioblastoma h n gb ngs T25 Glioblastoma h n gb ngs T26 Glioblastoma h n gb n...

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...

hereditary motor sensory neuropathies (hsmn/cmt) is the most common form of inherited polyneuropathy and is typically associated with an insidious onset of muscle wasting, distal predominant motor and sensory loss. hsmn/cmt is usually presenting with genetic heterogeneity, leading to diagnostic considerations that are dramatically developing for this disease. clinical presentations, gene mutati...

BACKGROUND Next-generation sequencing (NGS) data are used for both clinical care and clinical research. DNA sequence variants identified using NGS are often returned to patients/participants as part of clinical or research protocols. The current standard of care is to validate NGS variants using Sanger sequencing, which is costly and time-consuming. METHODS We performed a large-scale, systema...

Next generation sequencing (NGS) technologies have been rapidly applied in biomedical and biological research since its advent only a few years ago, and they are expected to advance at an unprecedented pace in the following years. To provide the research community with a comprehensive NGS resource, we have developed the database Next Generation Sequencing Catalog (NGS Catalog, http://bioinfo.mc...

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...