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 a variety of article types (Original Research, Review, Communication, Opinion, Comment, Conference Report, Technical Note, Book Review, 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.

Publication Speed (median values for papers published in 2023): Submission to First Decision: 5.1 weeks; Submission to Acceptance: 17.0 weeks; Acceptance to Publication: 7 days (1-2 days of FREE language polishing included)

Current Issue: 2024  Archive: 2021 2020 2019

Topical Collection

Genetic Testing

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 (14 papers)


Jump to: 2021 2020 2019 

Open Access Review

Investigating the Genetic Basis of Unexplained Infertility and Potential Chromosomal Abnormalities

Received: 24 March 2024;  Published: 20 June 2024;  doi: 10.21926/obm.genet.2402246


Infertility affects millions globally, with 10-15% of couples experiencing unexplained cases. Despite advancements in medicine, the cause remains unknown, causing emotional distress. Recent research suggests a genetic basis for this issue. This review aims to provide a better understanding of the un [...]
Open Access Review

Biotechnology Innovation in Do-It-Yourself (DIY) Gene Editing: A Call for a New Regulatory Framework

Received: 04 March 2024;  Published: 29 May 2024;  doi: 10.21926/obm.genet.2402238


The expansion of do-it-yourself (DIY) gene editing, facilitated by Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology, has catalyzed a significant shift in scientific research and biotechnology innovation. This movement is propelled by a community-driven approach that chal [...]
Open Access Review

Allelic Variation of High-Molecular-Weight Glutenin Genes in Triticum Species and Triticale (× Triticosecale Wittmack)

Received: 27 February 2024;  Published: 09 April 2024;  doi: 10.21926/obm.genet.2402225


High-molecular-weight glutenin subunits (HMW-GS) encoded by alleles at the Glu-A1, Glu-B1, and Glu-D1 loci confer unique bread-making properties of common wheat (Triticum aestivum L.). The identification [...]
Open Access Original Research

Molecular Study on Y Chromosome Microdeletion in Male Infertility: A Cross-Sectional Design in Indonesian Men

Received: 09 October 2023;  Published: 27 February 2024;  doi: 10.21926/obm.genet.2401216


Y chromosome microdeletions (YCMs) are one kind of genetic disorder that contributes to male infertility. This study aims to determine the profile of YCMs in the infertile male population in Indonesia. This cross-sectional study was conducted by identifying YCMs testing data on 49 infertile male pat [...]


Jump to: 2024 2020 2019 

Open Access Original Research

About Cryptic Acrocentric Pericentromeric Abnormalities in Infertile

Received: 16 April 2021;  Published: 25 August 2021;  doi: 10.21926/obm.genet.2103135


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 [...]


Jump to: 2024 2021 2019 

Open Access Review

Genetic Explanations for Fertility Disorders

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


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 [...]
Open Access Technical Note

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

Received: 02 March 2020;  Published: 13 May 2020;  doi: 10.21926/obm.genet.2002109


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 [...]
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

Received: 30 December 2019;  Published: 26 April 2020;  doi: 10.21926/obm.genet.2002108


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 [...]


Jump to: 2024 2021 2020 

Open Access Review

The Role of Genetic Counseling in Gynecological Oncology

Received: 15 July 2019;  Published: 12 December 2019;  doi: 10.21926/obm.genet.1904101


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 [...]
Open Access Review

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

Received: 01 April 2019;  Published: 09 August 2019;  doi: 10.21926/obm.genet.1903088


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 [...]
Open Access Original Research

The Evolution of DNA Typing in Agri-Food Chain

Received: 11 June 2019;  Published: 23 July 2019;  doi: 10.21926/obm.genet.1903086


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 [...]
Open Access Review

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

Received: 03 June 2019;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903084


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 [...]
Open Access Case Report

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

Received: 11 March 2019;  Published: 15 May 2019;  doi: 10.21926/obm.genet.1902077


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 [...]
Open Access Short Report

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

Received: 29 October 2018;  Published: 22 January 2019;  doi: 10.21926/obm.genet.1901061


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 [...]