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 2024): Submission to First Decision: 6.4 weeks; Submission to Acceptance: 12.2 weeks; Acceptance to Publication: 7 days (1-2 days of FREE language polishing included)
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 (20 papers)
Open Access
Original Research
Abstract
| Genetic factors including TNF-β and DRD2 have been considered as essential components in the etiology of migraine. Several studies have investigated the association between TNF-β +A252G or DRD2 C939T polymorphisms and migraine risk, with debatable results. We aimed to examine whether TNF-β +A252G an [...] |
Open Access
Original Research
Abstract
| Characterization of the non-coding part of the transcriptome is a supplement to the annotation of the genome of living organisms. According to ISSR-fingerprinting data, information is obtained about ancient gene pools, modern gene pools, genetic variability and conservation of bre [...] |
Abstract
| Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. [...] |
Open Access
Original Research
Abstract
| Dystrophinopathies are genetic muscular disorders with recessive inheritance linked to the X chromosome due to mutations in the dystrophin gene, the DMD gene located in Xp21. The best-known forms are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Our stud [...] |
Abstract
| To present a rare clinical case of a man affected simultaneously by Becker phenotype Muscular Dystrophy (MD) and Klinefelter syndrome and the way how he was diagnosed. A 35-year-old man was evaluated in the context of hospitalization for respiratory failure. Since childhood, he [...] |
Open Access
Original Research
Abstract
| Assisted reproductive technologies (ART), including in vitro fertilization (IVF), are modern medical technologies widely used in developed countries. A frequent complication of pregnancy resulting from ART is miscarriage. The leading cause of miscarriage, both sporadic and recurrent, is [...] |
Abstract
| 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 [...] |
Abstract
| 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 [...] |
Abstract
| 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 of HMW-GS is [...] |
Open Access
Original Research
Abstract
| 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 [...] |
Open Access
Original Research
Abstract
| 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 [...] |
Abstract
| 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
Abstract
| 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
Abstract
| 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 [...] |
Abstract
| 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 to evaluate the possible reproductive risk for [...] |
Abstract
| With the advent of next-generation sequencing (NGS), genomic profiling of tumors has been gradually introduced into the clinical setting and has become a standard in cancer care. NGS allows convenient, rapid, and inexpensive sequencing and the commercially available NGS panels enable the detection o [...] |
Open Access
Original Research
Abstract
| Background: DNA typing has revolutionized not only diagnostics and forensics but also how we can analyze food. A number of techniques have been successfully applied for DNA analysis of plant-derived food. However, unlike forensics, a universally [...] |
Abstract
| 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 [...] |
Abstract
| Background: 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 [...] |
Abstract
| 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 [...] |
