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.
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Rapid publication: manuscripts are undertaken in 15.0 days from acceptance to publication (median values for papers published in this journal in the second half of 2021, 1-2 days of FREE language polishing time is also included in this period).
Next Generation Sequencing
Submission Deadline: August 31, 2017 (Open) Submit Now
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.
Received: 14 August 2018; Published: 13 September 2018; doi: 10.21926/obm.genet.1803034
he publication of the double helix DNA structure in 1953  was the kick-off of numerous efforts to understand and unravel the complexity of the human genome. It took 50 years until the human genome project, based on Sanger sequencing, was completed in 2003 . This was followed by what may be considered a revolution in the field of DNA [...]
German Guidelines for Molecular Genetic Diagnostic Testing Using High-throughput Technology, Such As Next-Generation Sequencing
by Peter Bauer , Gabriele Wildhardt , Dieter Gläser , Clemens Müller-Reible , Hanno Bolz , Hanns-Georg Klein , Ulrich Finckh and Ute Hehr
Received: 24 September 2017; Published: 28 April 2018; doi: 10.21926/obm.genet.1802019
We present, on behalf of the German Society of Human Genetics, guidelines for molecular genetic diagnostics with high throughput technology, for example using Next-Generation Sequencing. This work was put together by a group of experts and included public commenting of the members of the German Society of Human Genetics. While experts apprecia [...]
Identification and Prioritization of Causal Variants of Human Genetic Disorders from Exome or Whole Genome Sequencing Data
by Nagarajan Paramasivam , Martin Granzow , Christina Evers , Katrin Hinderhofer , Stefan Wiemann , Claus R. Bartram , Roland Eils and Matthias Schlesner
Received: 24 October 2017; Published: 16 April 2018; doi: 10.21926/obm.genet.1802017
With genome sequencing entering the clinics as diagnostic tool to study genetic disorders, there is an increasing need for bioinformatics solutions that enable precise causal variant identification in a timely manner. Background: Workflows for the identification of candidate disease-causing variants perform usually the following tasks: i) [...]
Application of Clinical Next Generation Sequencing in Intensive Care Facilitates Rapid Diagnosis of Neonates with Rare Genetic Disorders
by Tobias Geis , Ute Hehr , Roland Brandl , Saskia Herbst , Hugo Segerer , Michael Melter and Sophie Hinreiner
Received: 31 August 2017; Published: 06 March 2018; doi: 10.21926/obm.genet.1801015
Background: Neonatal muscular hypotonia is a common clinical feature on neonatal intensive care units with a broad spectrum of etiologies. Besides more common and obvious underlying conditions like prematurity or Down syndrome many rare disorders with often poor prognosis need to be considered. Congenital brain malformations detected on ultras [...]
Received: 31 August 2017; Published: 24 February 2018; doi: 10.21926/obm.genet.1801014
Autism spectrum disorder is a clinically heterogeneous condition, characterized by social deficits, language impairment, repetitive behaviors, and restricted interest. Autism displays significant genetic heterogeneity. In the past one and a half decades, next generation sequencing has enabled identification of many variants that predispose [...]
Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Families
by Kerstin Grund , Dominik Sturm , Christian Sutter , Felix Sahm , Katrin Hinderhofer , Christian Kratz , Daniel Schrimpf , Andreas von Deimling , Kristian Pajtler , David Jones , Stefan Pfister and Nicola Dikow
Received: 01 September 2017; Published: 05 December 2017; doi: 10.21926/obm.genet.1704011
The MNP 2.0 study offers a specified oncologic diagnosis and the detection of possible therapeutic targets for a large cohort of pediatric neurooncologic patients. With the parents / patients agreement the study also performs germline analysis of all included patients and thereby translates scientific analysis in medical genetic care. This [...]
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