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.

Indexing: DOAJ-Directory of Open Access Journals.

Archiving: full-text archived in CLOCKSS.

Rapid publication: manuscripts are undertaken in 8.5 days from acceptance to publication (median values for papers published in this journal in the first half of 2019, 1-2 days of FREE language polishing time is also included in this period).

Current Issue: 2020  Archive: 2019 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

Website | E-Mail

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

Website | E-Mail

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.

Publication

Open Access Editorial

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

Received: 14 August 2018;  Published: 13 September 2018;  doi: 10.21926/obm.genet.1803034

Abstract

he publication of the double helix DNA structure in 1953 [1] 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 [2]. This was followed by what may be con [...]
Open Access Concept Paper

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

Received: 24 September 2017;  Published: 28 April 2018;  doi: 10.21926/obm.genet.1802019

Abstract

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 Soci [...]
Open Access Original Research

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

Received: 24 October 2017;  Published: 16 April 2018;  doi: 10.21926/obm.genet.1802017

Abstract

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 [...]
Open Access Original Research

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

Received: 31 August 2017;  Published: 06 March 2018;  doi: 10.21926/obm.genet.1801015

Abstract

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. Cong [...]
Open Access Review

Next Generation Sequencing in Autism Spectrum Disorder

Received: 31 August 2017;  Published: 24 February 2018;  doi: 10.21926/obm.genet.1801014

Abstract

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 identi [...]
Open Access Original Research

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

Received: 01 September 2017;  Published: 05 December 2017;  doi: 10.21926/obm.genet.1704011

Abstract

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 scientif [...]
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