Table of Contents

Volume 2,Issue 2

Open Access Opinion

On Objectivity in Prenatal Genetic Care

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

Abstract

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 partner [...]

Open Access Technical Note

User-Friendly Approach to Gain Isolation of Interphase Cells for Fluorescence in Situ Hybridization

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

Abstract

(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 inc [...]

Open Access Review

Non-Coding RNAs in Cutaneous Melanoma Development, Progression and Dissemination

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

Abstract

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 re [...]

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 Opinion

Moving Towards Routine Non-Invasive Prenatal Testing (NIPT): Challenges Related to Women’s Autonomy

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

Abstract

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 decisi [...]

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 Review

Current Understanding of DNA Methylation and Age-related Disease

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

Abstract

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 [...]

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