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

Genetic Testing

Submission Deadline: April 01, 2019 (Open) Submit Now

Guest Editor

Joep Geraedts, PhD

Emeritus Professor of Genetics and Cell Biology, Maastricht University, P.O. Box 616, 6200 MD Maastricht, the Netherlands

Website | E-Mail

Research Interests: reproductive genetics; cancer genetics; preimplantation genetic diagnosis; genetic testing; evolution, etc

About This Topic

The special issue genetic testing will cover a broad range of activities, which can be divided in the following types of testing: genealogical, forensic and medical. Furthermore, genetic testing is done in both humans and animals. In this special issue attention will be paid to the methods used. Finally, also the ethical and legal aspects will be covered.
Genealogical testing is done to determine ancestral ethnicity and relationships. Many companies are offering these tests. Based on a saliva sample ancestral information, including Neanderthal ancestry is reported.
Forensic DNA testing in humans can be applied among others to test suspects of crime but also for identification purposes of missing persons, crime victims or in case of adoption. Y chromosomal haplotyping is employed in paternity disputes.
In wildlife forensic testing is used to determine illegal trade in protected and endangered species or to trace the geographic origin or the species of a sample.
Medical genetic testing is done before, during and after pregnancy to identify chromosomal mutations and single gene disorders. Testing can be done for screening, diagnosis, and prognosis of diseases consistent with a genetic cause and to guide drug therapy to improve drug efficacy and avoid adverse effects (pharmacogenomics).
All medical genetic testing should be voluntary. Therefore, this special issue will devote attention to risks, complications and counselling aspects as well.

Planned Papers

Title: Fetal dysmorphology in the Genomic Era – A practical approach.
Author: Margaret Evans

Title: A multifactorial test for predisposition to melanoma integrating genetic and clinical risk factors in daily clinical practice
Authors: Meriem Benfodda, Steven Gazal, Vincent Descamps, Nika Madjlessi, Celeste Lebbe, Nicole Basset-Seguin, Alain Archimbaud, Kristina Opletalova, Valerie Vuong, Caroline Nicaise ergere, Sandrine Massart-Manil, Bruno Machuel, Anne Grange, Philippe Saiag, Nicolas Dupin, Pierre Wolkenstein, Armand Bensussan, Eduardo Nagore, Rajiv Kumar, Florent Grange, Nadem Soufir

Title: Genetic testing of infertility
Author: Joep Geraedts

Title: Candidate gene, population association studies in the genetic epidemiology of common diseases and complex traits
Author: Susana David


Open Access Review

Genetic Explanations for Fertility Disorders

Joep Geraedts
Received: May 02, 2020; Published: June 23, 2020; doi:10.21926/obm.genet.2002111

Open Access Technical Note

HER2 FISH for Breast Cancer: Advances in Quantitative Image Analysis and Automation

Jun Gu, Zhenya Tang, Hui Chen, Steven Sfamenos, Katherine B Geiersbach
Received: March 02, 2020; Published: May 13, 2020; doi:10.21926/obm.genet.2002109

Open Access Research Article

Professionals’ Views on Offering Pre-Natal Testing for Adult Onset Cancer Susceptibility. Reconciling Personal and Professional Ethical Conflicts, Coping Strategies and Need for Policy Transparency

Lorraine Cowley, Mari Jones
Received: December 30, 2019; Published: April 26, 2020; doi:10.21926/obm.genet.2002108

Open Access Review

The Role of Genetic Counseling in Gynecological Oncology

Ciro Comparetto, Florence Dupré, Franco Borruto
Received: July 15, 2019; Published: December 12, 2019; doi:10.21926/obm.genet.1904101

Open Access Review

Next-Generation Sequencing-Based Testing in Diagnostic Oncohematology: Untangling the Knots

Ilaria Scarpelli, Fabienne Marcelli, Francesca Mattioli, Jacqueline Schoumans
Received: April 1, 2019; Published: August 9, 2019; doi:10.21926/obm.genet.1903088

Open Access Original Research

The Evolution of DNA Typing in Agri-Food Chain

Melania Formisano, Giandomenico Corrado
Received: June 11, 2019; Published: July 23, 2019; doi:10.21926/obm.genet.1903086

Open Access Review

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Georgia Kakourou, Thalia Mamas, Christina Vrettou, Jan Traeger-Synodinos
Received: June 03, 2019; Published: July 22, 2019; doi:10.21926/obm.genet.1903084

Open Access Case Report

Diagnosis of Fetal Kabuki Syndrome By Exome Sequencing Following Non-Specific Ultrasound Findings

Hagit Daum, Simcha Yagel, Mordechai Shohat
Received: March 11, 2019; Published: May 15, 2019; doi:10.21926/obm.genet.1902077

Open Access Short Report

The Usefulness of Preimplantation Genetic Testing for Chromosome Aneuploidy Informed by A Randomised Controlled Trial

Paul Scriven
Received: October 29, 2018; Published: January 23, 2019; doi:10.21926/obm.genet.1901061