by Diane B. Paul  and Ilana Löwy

Received: 16 April 2018;  Published: 12 June 2018;  doi: 10.21926/obm.genet.1802022

We address an ongoing controversy over what health-care providers tell prospective parents about Down Syndrome (DS). In the view of critics, including many parent, disability-rights, and anti-abortion activists, the messages that health-care professionals transmit to pregnant women and their partners are distorted. OB-GYNs, primary-care providers, clinical geneticists, midwives and other medical professionals generally believe that the quality of life for individuals with DS and their families i [...]

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 repor [...]

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- [...]

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 appreciated the fundamental work of the EuroGentest guidelines for diagnostic next-generation sequencing, we identified a couple of new as well as country-specific [...]

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 th [...]

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 pro [...]

by Eunise Martha 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 [...]