by Thomas Liehr  , Ahmed B.H. Al-Rikabi  , Nadezda Kosyakova  and Monika Ziegler

Received: 16 March 2018;  Published: 17 May 2018;  doi: 10.21926/obm.genet.1802021

(1) Background: Fluorescence in situ hybridization (FISH) may be performed on metaphase- and/or interphase cells. Metaphase cells can exclusively be obtained and studied after time consuming cell culture. Therefore suited cells derive from peripheral blood, bone marrow or fibroblasts, the latter including skin, tumour or “prenatal tissues”, like amnion or chorion. On the other hand interphase cells can be gained from many different cells and even without cell culture. (2) Methods: Here we report an approach by whi [...]

by Virginie Vignard  and Delphine Fradin

Received: 13 March 2018;  Published: 15 May 2018;  doi: 10.21926/obm.genet.1802020

Melanoma is a highly aggressive skin cancer with high incidence worldwide. There are growing evidences that aberrantly expressed non-coding RNAs (ncRNAs) play a role in the development, progression and dissemination of melanoma tumor cells. Among the many types of ncRNAs, we will describe in this review, the function of micro- and long non-coding RNAs in the six hallmarks of cancer. Recently, ncRNAs were discovered in body fluids becoming one of the most promising biomarkers in oncology for non-invasive diagnosis, [...]

by Peter Bauer  , Gabriele Wildhardt  , Dieter Gläser  , Clemens Müller-Reible  , Hanno J. 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 appreciated the fundamental work of the EuroGentest guidelines for diagnostic next-generation sequencing, we identified a couple of new as well as country-specific topics that we have [...]

by Stanislav Birko  , Marie-Eve Lemoine  , Minh Thu Nguyen  and Vardit Ravitsky

Received: 10 February 2018;  Published: 19 April 2018;  doi: 10.21926/obm.genet.1802018

Women’s reproductive autonomy, and its translation into informed free choice regarding prenatal testing, is a dominant concept in the bioethical discourse concerning prenatal testing. This discourse is based on the premise that access to information regarding the pregnancy promotes autonomous decision-making. However, studies show that the offer of prenatal screening as a routine part of pregnancy care is not supported, to a large degree, by appropriate informed consent mechanisms. This means that the implementatio [...]

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) identification of variants; ii) filtering of variants to remove polymorphisms and technical artifacts; and iii) prioritization of the remaining variants to provide a small set of [...]

by Eunise M. Aquino  , Miles C. Benton  , Larisa M. Haupt  , Heidi G. Sutherland  , Lyn R. Griffiths  and Rodney A. Lea

Received: 12 February 2018;  Published: 11 April 2018;  doi: 10.21926/obm.genet.1802016

DNA methylation involves the covalent transfer of a methyl group to the C-5 position of the cytosine ring on a DNA strand which can affect gene transcription. DNA methylation is both heritable and modifiable. In recent years, epigenome-wide association studies using high-throughput technologies have associated variation in DNA methylation levels with normal and pathological aging processes in human populations. Consequently, DNA methylation patterns have been used to construct epigenetic clocks which can serve as p [...]

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 ultrasound or/and magnetic resonance imaging might constitute the clinical hallmark in differential diagnosis. We report on our approach combining cerebral imaging and application o [...]

by Jiani Yin  , David Oleson  and Christian P. Schaaf

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 to autism. These discoveries have improved understanding of the disease etiology of autism spectrum disorder. In this review article, we will address how development of next gene [...]

by Martina C Cornel

Received: 13 July 2017;  Published: 11 February 2018;  doi: 10.21926/obm.genet.1801013

Technology makes it possible to expand many of the current screening programs. In preconception screening for carrier status of recessive diseases, prenatal screening for aneuploidies and neonatal screening initially programs were targeting one or a few conditions. Tandem mass spectrometry and genomic technologies, such as sequencing and panel testing, make it possible to increase the scope of the programs to include more disorders or markers. While inclusion of more similar conditions may lead to a better achievem [...]

by Khue Vu Nguyen

Received: 18 January 2018;  Published: 31 January 2018;  doi: 10.21926/obm.genet.1801012

With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic and epigenetic regulation in diseases are a major cause of disability, death, and human tragedy. Here, I discuss current knowledge about this matter including the diagnosis, counseling, treatment and management as well as some current therapeutic interventions such as gene, stem cell, epigenetic therapies and future directions in the field.