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.
Archiving: full-text archived in CLOCKSS.
Rapid publication: manuscripts are undertaken in 15.0 days from acceptance to publication (median values for papers published in this journal in the second half of 2021, 1-2 days of FREE language polishing time is also included in this period).
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
Topical Collection Information
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.
Publication (10 papers)
Cryptic balanced chromosomal aberrations can be an underlying cause of infertility. In 2003 Cockwell and coworkers highlighted the relevance of euchromatic pericentric regions of acrocentric chromosomes that may be a yet ignored genomic region hosting cryptic rearrangements. Here we offe [...]
This article reviews the genetic testing of infertility disorders. Genetic abnormalities can lead to disturbances of sexual development and hamper reproduction by influencing gamete production and maturation, fertilization, and embryonic development. Until now, the vast majority of detectable geneti [...]
Quantitative image analysis of the status of human epidermal growth factor receptor 2 (HER2) by both immunohistochemistry staining and fluorescent in situ hybridization (FISH) is important for the treatment of breast cancer. Guidelines of the American Society for Clinical Oncology and College of Ame [...]
This paper explores views of healthcare professionals (HCPs) in genetics and foetal medicine settings on offering pre-natal diagnosis (PND) for adult onset cancer susceptibility (AOCS) genes. Study participants came from different disciplinary backgrounds and all had considered implications of offer [...]
Background: Clinical or medical genetics deals with the study and diagnosis of genetic diseases. It is oriented to the formulation of the clinical diagnosis of genetic diseases and genetic counseling, in order to evaluate the possible reproductive risk for the patient and his family. The geneticist [...]
With the advent of next generation sequencing (NGS), genomic profiling of tumors has gradually been introduced into the clinical setting and become a standard in cancer care. NGS allows easier, faster and cheaper sequencing and commercially available panels enable the detection of single or global [...]
Background: DNA typing has revolutionised not only diagnostics and forensics but also how we can analyse food. A number of techniques have been successfully applied for DNA analysis of plant-derived food however, unlike forensics, no method has become universally employed.
Methods: A keyword-based s [...]
Preimplantation Genetic Testing for HLA-matching (PGT-HLA) has been one of the most controversial PGT applications, first reported in 2001. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the family in need of haematopoietic stem cell transpla [...]
Fetal exome sequencing is becoming a crucial modality for genetic investigation whenever fetal malformations are documented in the context of normal chromosomal microarray analysis (CMA). When ultrasound findings are non-specific, the robustness of exome sequencing may be the only way to achieve a m [...]
United Kingdom guidelines recommend single embryo transfer (fresh or cryopreserved) in the first full assisted conception cycle for women under 40 years most at risk of having twins. Based on a recent randomized clinical trial for women aged 36 to 40 years, the hypothetical effect of preimplantation [...]