Journal Flyer

Current issue: 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
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
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: Next generation sequencing in autism spectrum disorder
Authors: Jiani Yin 1,2; Christian P. Schaaf 1,2,*
Affiliations: 1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
2. Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Houston, TX, USA

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

Title: Application of clinical next generation sequencing in neonatal intensive care
Authors: Tobias Geis 1, Ute Hehr 2, Hugo Segerer 1, Saskia Herbst 2, Michael Melter 1, Sophie Hinreiner 2
Affiliations: 1. Department of Peadiatrics, University Children’s Hospital, Regensburg, Germany
2. Center for Humangenetics and Department of Human Genetics, University of Regensburg, Regensburg, Germany

Title:Implementing next-generation sequencing into diagnostics
Authors:Peter Bauer 1, Hanno Bolz 2, Dieter Gläser 3, Ute Hehr 4, Hanns-Georg Klein 5, Ulrich Finckh 6, Clemens Müller-Reible 7, Gabriele Wildhardt 8
Affiliations: 1. Institut für Medizinische Genetik und Angewandte Genomik, Universtitätsklinikum Tübingen und Centogene AG, Rostock, Germany
2. Institut für Humangenetik, Universitätsklinikum Köln, Germany
3. genetikum Neu-Ulm, Germany
4. Zentrum für Humangenetik, Universitätsklinikum Regensburg, Germany
5. Zentrum für Humangenetik und Laboratoriumsdiagnostik, Martinsried, Germany
6. Praxis für Humangenetik, Dortmund, Germany
7. Institut für Humangenetik, Universität Würzburg, Germany
8. bio.logis, Zentrum für Humangenetik, Frankfurt, Germany

Title: Identification and prioritisation of causal germline variants and genes in Mendelian disorders from DNAseq/NGS data
Authors: Nagarajan Paramasivam 1,2, Roland Eils 1,3, Matthias Schlesner 1,4
Affiliations: 1. Theoretical Bioinformatics Division, German Cancer Research Center (DKFZ), Heidelberg, Germany
2. Medical Faculty Heidelberg, Heidelberg University, Germany
3. Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, Heidelberg, Germany
4. Bioinformatics and Omics Data Analytics, German Cancer Research Center (DKFZ), Heidelberg, Germany

Title: NGS and pediatric brain tumors: detection of tumor predisposition syndromes in patients and their families.
Authors: Kerstin Grund 1,3, Dominik Sturm 2,3, Christian Sutter 1, Felix Sahm 4, Katrin Hinderhofer 1, Kristian W. Pajtler 2,3, David TW Jones 3. Stefan M. Pfister 2,3, Nicola Dikow 1
Affiliations: 1. Institute for Human Genetics, University Hospital Heidelberg, Germany
2. Department of Pediatric Oncology, Hematology and Immunology, University Hospital Heidelberg, Germany
3. Division of Pediatric Neuro-Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany
4. Department of Neuropathology, Institute of Pathology, University Hospital Heidelberg and Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany