OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.

Free Publication in 2019
Current Issue: 2019  Archive: 2018 2017

Special Issue

Next Generation Sequencing

Submission Deadline: August 31, 2017 (Open)               Submit Now

Guest Editors

Ute Moog, MD, PhD
Professor, Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany
E-Mail: [email protected]
Website: https://www.klinikum.uni-heidelberg.de/Patientenversorgung.100281.0.html
Research Interests: genetics; pediatrics; dysmorphology; intellectual disability; neurocutaneous disorders

Domenico Coviello, MD, PhD
Director of Laboratory of Human Genetics, Department of Genetic Sciences and I.B.M.D.R., Galliera Hospital, Via Volta 6, 16128 Genova, Italy
E-Mail: [email protected]
Website: http://galliera.it/
Research Interests: genetics; cytogenetics; prenatal diagnosis; human biology

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.

Planned Papers

Title: Integration of Genomic Diagnostics into Clinical Practice
Authors: Sarah Bowdin 1; Ian Krantz 2
Affiliations: 1. Centre for Genetic Medicine, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada;
2. Division of Human Genetics and the Roberts Individualized medical genetics Center at the Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania

Publication

Open Access Editorial

Introduction to the Special Issue on Next Generation Sequencing: Short General Overview of NGS

Ute Moog, Domenico Coviello
Received: August 14, 2018; Published: September 17, 2018; doi:10.21926/obm.genet.1803034

Open Access Concept Paper

German Guidelines for Molecular Genetic Diagnostic Testing Using High-throughput Technology, Such As Next-Generation Sequencing

Peter Bauer, Gabriele Wildhardt, Dieter Gläser, Clemens Müller-Reible, Hanno J. Bolz, Hanns-Georg Klein, Ulrich Finckh, Ute Hehr
Received: September 24, 2017; Published: April 28, 2018; doi:10.21926/obm.genet.1802019

Open Access Original Research

Identification and Prioritization of Causal Variants of Human Genetic Disorders from Exome or Whole Genome Sequencing Data

Nagarajan Paramasivam, Martin Granzow, Christina Evers, Katrin Hinderhofer, Stefan Wiemann, Claus R, Bartram, Roland Eils, Matthias Schlesner
Received: October 24, 2017; Published: April 16, 2018; doi:10.21926/obm.genet.1802017

Open Access Original Research

Application of Clinical Next Generation Sequencing in Intensive Care Facilitates Rapid Diagnosis of Neonates with Rare Genetic Disorders

Tobias Geis, Ute Hehr, Roland Brandl, Saskia Herbst, Hugo Segerer, Michael Melter, Sophie Hinreiner
Received: August 31, 2017; Published: March 6, 2018; doi:10.21926/obm.genet.1801015

Open Access Review

Next Generation Sequencing in Autism Spectrum Disorder

Jiani Yin, David Oleson, Christian P. Schaaf
Received: August 31, 2017; Published: February 24, 2018; doi:10.21926/obm.genet.1801014

Open Access Original Research

Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Families

Kerstin Grund, Dominik Sturm, Christian Sutter, Felix Sahm, Katrin Hinderhofer, Christian Kratz, Daniel Schrimpf, Andreas von Deimling, Kristian W. Pajtler, David TW Jones, Stefan M. Pfister, Nicola Dikow
Received: September 1, 2017; Published: December 6, 2017; doi:10.21926/obm.genet.1704011

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