Next Generation Sequencing
Submission Deadline: August 31, 2017 (Open) Submit Now
Ute Moog, MD, PhD
Domenico Coviello, MD, PhD
About This Topic
Next Generation Sequencing (NGS) was introduced as a new high-throughput sequencing technology about 10 years ago and since then has proven to be a landmark in genetics. Enabling large genomic parts or even the whole genome to be sequenced at costs dropped to an amazingly low level, NGS has quickly become a powerful research tool, and has allowed the identification of numerous disease genes. It has continued to evolve as a clinical tool and is now being used as panel diagnostics for heterogeneous disorders or exome sequencing. Thus, NGS has considerably contributed to what is called reverse genetics, i.e. the delineation of a phenotype after identification of the genotype, and has greatly changed the profile of the genetic profession.
In this special issue of OBM Genetics, we aim to highlight NGS experiences from more than a decade. The issue not only addresses the state of art of guidelines that have been established and the overwhelming advancements in different medical fields made by NGS but also sheds light on the many challenges and limitations this method faces, and discusses ethical issues as well as the influence it has on training policies.
Substantial comments/contributions to any aspect of NGS are welcome and we invite young scientists (under 40) to send their most recent publication on their effort/activity in the development/application of this technology or any professional who are involved in the consequence of this application with patients or at population level. We will give two awards of 500 Euros each to a young scientist for the attendance to a meeting, one to the best contribution on technology/application aspect and one for the best contribution on ELSI (Ethical, Legal, psycho-Social Issues). Information on this will be announced on the website of the Journal.
Title: Next generation sequencing in autism spectrum disorder
Title: Integration of Genomic Diagnostics into Clinical Practice
Title: Application of clinical next generation sequencing in neonatal intensive care
Title：Implementing next-generation sequencing into diagnostics
Title: Identification and prioritisation of causal germline variants and genes in Mendelian disorders from DNAseq/NGS data
Title: NGS and pediatric brain tumors: detection of tumor predisposition syndromes in patients and their families.