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.

Free Publication in 2019

Open Access Original Research

Genes Coding for GPI Biosynthesis in Pneumocystis Experienced Relaxed Selection: A Follow-up Study

Luis Delaye
Received: May 5, 2019; Published: July 11, 2019; doi:10.21926/obm.genet.1903083

Abstract: Background: Phylogenetic analyses shows that Pneumocystis species have coevolved with their mammalian hosts for millions of years. As a result, infection by Pneumocystis is species specific (i.e. a given Pneumocystis species can infect only a single species of host). This specificity suggests the ex [...]

Open Access Original Research

Individual Radiosensitivity in Lung Cancer Patients Assessed by G0 and Three Color Fluorescence in Situ Hybridization

Theresa Mayo, Barbara Schuster, Anna Ellmann, Manfred Schmidt, Rainer Fietkau, Luitpold V. Distel
Received: July 27, 2018; Published: June 26, 2019; doi:10.21926/obm.genet.1902082

Abstract: Background: It is known that radiosensitivity is very individual. This can influence the tumor response and side effects in normal tissue after radiotherapy of cancer. Therefore we analyzed the sensitivity of a lung cancer cohort to see if they display a similar radiosensitivity distribution if comp [...]

Open Access Case Report

A De Novo Childhood Case of T-cell Lymphoblastic Leukemia with High Hyperdiploid Karyotype Carrying an Unreported Balanced Translocation t(X;5)(q26;q31.3~32) in A Male Patient

Walid AL-ACHKAR, Manar As’sad, Thomas Liehr, Adnan Ikhtiar, Abdulsamad Wafa
Received: August 14, 2018; Published: June 20, 2019; doi:10.21926/obm.genet.1902081

Abstract: (1) Background: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes with multiple genetic abnormalities, accounting for 15% and 25% of newly diagnosed cases of ALL in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males. Cytogenet [...]

Open Access Review

Airborne Interindividual Transmission of Pneumocystis jirovecii

Laurence Pougnet, Solène Le Gal, Gilles Nevez
Received: December 17, 2018; Published: May 22, 2019; doi:10.21926/obm.genet.1902080

Abstract: Pneumocystis pneumonia (PCP) is still the most frequent AIDS-defining disease in developed countries and also concerns patients with other immunodeficiencies not associated with HIV. Experimental studies on rodent models carried out in the early eighties have showed that Pneumocystis sp. can be tran [...]

Open Access Review

The Changed Transcriptome of Muscular Dystrophy and Inflammatory Myopathy: Contributions of Non-Coding RNAs to Muscle Damage and Recovery

Boel De Paepe
Received: February 28, 2019; Published: May 16, 2019; doi:10.21926/obm.genet.1902079

Abstract: In order to successfully recover from damage, skeletal muscle tissue requires proper activation of a tightly orchestrated repair program. To this complex process of demolition and rebuilding, non-coding RNAs actively participate. In this review, the contribution of dysregulated non-coding RNA expres [...]

Open Access Review

Pneumocystis Species Co-evolution: State-of-the-Art Review

Christine Demanche, Jacques Guillot, Magali Chabé
Received: February 22, 2019; Published: May 15, 2019; doi:10.21926/obm.genet.1902078

Abstract: At the end of the 20th century, the notion of a unique species in the genus Pneumocystis (i.e. Pneumocystis carinii) was challenged and our understanding of the natural history of pneumocystosis was drastically changed. It is now accepted that the Pneumocystis genus comprises multiple stenoxenic bio [...]

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

Abstract: 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 Review

FISHing for Unstable Cellular Genomes in the Human Brain

Yuri B. Yurov, Svetlana G. Vorsanova, Ivan Y. Iourov
Received: February 6, 2019; Published: April 30, 2019; doi:10.21926/obm.genet.1902076

Abstract: The human brain has been repeatedly shown to exhibit intercellular/somatic genomic variations at chromosomal level, which are involved in neuronal diversity in health and disease. Brain-specific chromosomal mosiacism (aneuploidy) and chromosome instability play a role in normal and pathological neur [...]

Open Access Editorial

Epigenetics is Here to Stay

Marcel Mannens
Received: April 24, 2019; Published: April 30, 2019; doi:10.21926/obm.genet.1902075

Abstract: none

Open Access Review

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs

Rita Payan-Carreira
Received: December 30, 2018; Published: April 29, 2019; doi:10.21926/obm.genet.1902074

Abstract: In mammals, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated from the sex chromosomal complement, which triggers a series of genetic pathways that signal the pattern of development of the gonad anlage. In males, the presence of the [...]

Open Access Case Report

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Racha El-Hajj Ghaoui, Dorothy Hung, Bhavna Padhye
Received: December 24, 2018; Published: April 17, 2019; doi:10.21926/obm.genet.1902073

Abstract: Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (2 [...]

Open Access Review

RNA Editors and DNA Mutators: Cancer Heterogeneity Through Sequence Diversification

Rafail Nikolaos Tasakis, F. Nina Papavasiliou, Rita Shaknovich
Received: December 3, 2018; Published: April 8, 2019; doi:10.21926/obm.genet.1902072

Abstract: Cancer development and progression is strongly associated with somatic mutations. From oncogenic hits that initiate the primary tumor formation till metastasis, the tumor mutational burden (TBM) plays a prominent role in disease progression for the vast majority of cancer types. Heterogeneous mutati [...]

Open Access Review

Molecular Mechanisms of Canine Cancers

Jennie Cao, Valentina L Kouznetsova, Igor F Tsigelny
Received: January 30, 2019; Published: April 1, 2019; doi:10.21926/obm.genet.1902071

Abstract: Cancer is the leading cause of death in dogs, and 50 percent of dogs over the age of 10 develop cancer at some point. The most common cancers in dogs include lymphoma, mast cell tumors, osteosarcoma, mammary gland tumors, and melanoma, and many of these share marked similarities with their human cou [...]

Open Access Review

The Role of Mitochondria in Oocyte and Early Embryo Health

Kyunga Kim, Shlomit Kenigsberg, Andrea Jurisicova, Yaakov Bentov
Received: January 1, 2019; Published: March 29, 2019; doi:10.21926/obm.genet.1901070

Abstract: The mitochondria of the oocyte are a prominent source of energy metabolism as well as mitochondrial DNA that will later populate the cells of the offspring. Recent discoveries provided new insight into the physiology of the mitochondria and its unique genetics. The unveiling of the heteroplasmy conc [...]

Open Access Opinion

Clonal Heterogeneity in Non-Small Cell Lung Cancer and the Possible Role in Predicting Response to Treatment with Immune Checkpoint Inhibitors

Annapaola Mariniello, Silvia Novello
Received: November 15, 2018; Published: March 22, 2019; doi:10.21926/obm.genet.1901069

Abstract: Immune oncology treatment with immune checkpoint inhibitors (ICIs) is revolutionizing therapeutic approach for advanced non-small cell lung cancer (NSCLC) patients, in terms of longer survival and improved quality of life. To date, the widely used and approved biomarker is programmed death ligand 1 [...]

Open Access Review

FISH-Based Analysis of Mosaic Aneuploidy and Chromosome Instability for Investigating Molecular and Cellular Mechanisms of Disease

Svetlana G. Vorsanova, Yuri B. Yurov, Ilia V Soloviev, Alexei D Kolotii, Irina A Demidova, Viktor S Kravets, Oxana S Kurinnaia, Maria A Zelenova, Ivan Y. Iourov
Received: February 8, 2019; Published: March 20, 2019; doi:10.21926/obm.genet.1901068

Abstract: Recently, numerous studies have reported convincing data suggesting that chromosome instability may be not only a trigger of cancers but a possible mechanism for a wide spectrum of brain diseases. According to our original experience, chromosome instability is commonly observed during karyotyping of [...]

Open Access Technical Note

Interphase Quantitative Fluorescence in Situ Hybridization (IQ-FISH)

Ivan Y. Iourov , Ilia V. Soloviev, Yuri B. Yurov, Svetlana G. Vorsanova
Received: February 2, 2019; Published: March 20,2019; doi:10.21926/obm.genet.1901067

Abstract: Fluorescence in situ hybridization (FISH) seems to be the most applicable and versatile molecular cytogenetic platform for interphase chromosome analysis offering a variety of opportunities for studying chromosomal structure and behaviour at the highest microscopic resolution and at all stages of th [...]

Open Access Research Article

New DNA Extraction Method for the Detection of Pneumocystis in Lung Tissue Samples of Colonized Individuals

Susana Ruiz-Ruiz, Carolina A Ponce, Nicole Pesantes, Rebeca Bustamante, Gianna Gatti, Viviana San Martin, Mireya Gutierrez, Mariana Izquierdo, Sergio L Vargas, Fabien Magne, Vicente Pérez-Brocal
Received: January 30, 2019; Published: March 18, 2019; doi:10.21926/obm.genet.1901066

Abstract: Background: Pneumocystis jirovecii colonization in asymptomatic subjects is associated with a low organism burden, which support the need to use highly sensitive molecular techniques, such as nested-PCR instead of immunohistochemical staining method to determine the presence of the organism. However [...]

Open Access Research Article

New Tools in Cognitive Neurobiology: Biotin-Digoxigenin Detection of Overlapping Active Neuronal Populations by Two-Color c-fos Compartment Analysis of Temporal Activity by Fluorescent in situ Hybridization (catFISH)

Khalid Saidov, Anna Tiunova, Oksana Subach, Fedor Subach, Konstantin Anokhin
Received: October 12, 2018; Published: March 4, 2019; doi:10.21926/obm.genet.1901065

Abstract: The method of cellular compartment analysis of temporal activity by fluorescent in situ hybridization (catFISH) is widely used in cellular and behavioral neurobiology. It exploits stimulus-induced expression of immediate early genes (IEGs) and allows identification of two neuronal populations activa [...]

Open Access Research Article

COMBO-FISH: A Versatile Tool Beyond Standard FISH to Study Chromatin Organization by Fluorescence Light Microscopy

Jin-Ho Lee, Florence Laure Djikimi Tchetgna, Matthias Krufczik, Eberhard Schmitt, Christoph Cremer, Felix Bestvater, Michael Hausmann
Received: September 14, 2018; Published: February 19, 2019; doi:10.21926/obm.genet.1901064

Abstract: Background: Fluorescence In Situ Hybridization (FISH) has become routine for bio-medical research and medical diagnosis, thereby offering a variety of probes and ready-to-use kits that fulfil requirements for many applications. However, conventional FISH relies on chemo- and/or thermal denaturation [...]

Open Access Opinion

Interphase FISH: A Helpful Assay in Prenatal Cytogenetics Diagnosis

Elena Sala, Donatella Conconi, Francesca Crosti, Nicoletta Villa, Serena Redaelli, Gaia Roversi
Received: October 1, 2018; Published: January 29, 2019; doi:10.21926/obm.genet.1901063

Abstract: Since its introduction around the end of the 1970s, interphase in situ hybridization supports classical and latest techniques for determining foetal karyotype in the prenatal diagnosis, providing relevant information for the management of pregnancy quickly. Interphase FISH plays an important role in [...]

Open Access Technical Note

Repli-FISH (Fluorescence in Situ Hybridization): Application of 3D-(Immuno)-FISH for the Study of DNA Replication Timing of Genetic Repeat Elements

Patrick Weber, Cathia Rausch, Annina Scholl, M. Cristina Cardoso
Received: July 22, 2018; Published: January 25, 2019; doi:10.21926/obm.genet.1901062

Abstract: Background: Genetic repeat elements (interspersed or tandem repeats) have diverse functions within cells and at different phases of the cell cycle. Yet, their investigation at a genome-wide scale has been difficult ever since due to their repetitive nature. Here, we describe a method to study the DN [...]

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

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 [...]

Open Access Review

Genotyping Pneumocystis jirovecii: Impacting Our Understanding of Interhuman Transmission

Maud Gits-Muselli, Stéphane Bretagne, Alexandre Alanio
Received: December 4, 2018; Published: January 18, 2019; doi:10.21926/obm.genet.1901060

Abstract: Pneumocystis jirovecii is an atypical fungus transmitted via interhuman airborn contact. This fungus is exclusively associated with humans and almost each individual has encountered it at least once before reaching the age of two. Pneumocystis jirovecii can be responsible for spontaneously resolutiv [...]

Open Access Editorial

A Healthy and Happy 2019

Joep Geraedts
Received: January 14, 2019; Published: January 17, 2019; doi:10.21926/obm.genet.1901059

Abstract: A healthy and happy 2019

Keystone Symposia: Leveraging Genomic Diversity to Promote Animal and Human Health

November 25-29, 2018, Kampala, Uganda

Conference Flyer: http://www.keystonesymposia.org/index.cfm?e=Web.Meeting.Flyer&MeetingID=1651

Keystone Symposia will serve as a catalyst for the advancement of biomedical and life sciences by connecting scientists within and across disciplines at conferences and workshops held at venues that create an environment conducive to information exchange, generation of new ideas and acceleration of applications that benefit society.

For more details, please visit: http://www.keystonesymposia.org/18S5

Genomics for Dermatology

November 19-21, 2018, Hinxton, Cambridge, UK

This course is designed to provide an introduction to genomics and bioinformatics for those working in dermatology and skin biology. The programme will provide a common understanding of genomics as applied to the skin and update attendees without recent exposure to advances in genetics of the skin. It will focus on genomic technologies including next generation sequencing and bioinformatics analysis. It will provide an overview of the current understanding on monogenic and polygenic skin diseases, and cancer genetics as applied to melanoma and non-melanoma skin cancers. Participants will be exposed to the methods required to analyse large data sets. There will also be a focus on the application of genomics to clinical practice.

For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/genomics-dermatology-2018/

Genomic Medicine 2018

December 5-6, 2018, Cambridge, UK

The second annual Genomic Medicine 2018 Cambridge will place on 5th & 6th December 2018 at Murray Edwards College in Cambridge and again as a partnership between Biotexcel, East of Anglia Genetics Service, Clinical Genetics at the University of Cambridge & the East of England NHS Genomic Medicine Centre. The running scientific theme for this meeting like other Biotexcel genomic meetings will cover the areas where Next Generation Sequencing is used in the analysis of human disease. These topics will include different disease areas where particularly promising genomic studies have been performed; large population studies; whole genome & whole exome studies; epigenomics and many other topics. In this meeting we will also hear from commercial genomic companies, whether those that currently have genomic solutions on the market, or those that are spin-outs or in the research or earlier phases.

For more details, please visit: https://biotexcel.com/event/genomic-medicine-2018-cambridge/

European Society of Human Genetics (ESHG) 2019

June 15-18, 2019, Gothenburg, Sweden

On behalf of the board of the European Society of Human Genetics, it is my privilege to invite you to the annual European Human Genetics Conference, which in 2019 will take place in the beautiful city of Gothenburg, Sweden, from the 15th to the 18th of June. As a Norwegian I am especially pleased to welcome you to a meeting in Scandinavia that will let you experience the famous Scandinavian mid-summer. If you have time I recommend to stay a few extra days to experience the magnificent Swedish west coast.

For more details, please visit: https://2019.eshg.org

Antimicrobial Resistance – Genomes, Big Data and Emerging Technologies

November 27-29, 2018, Hinxton, UK

Antimicrobial resistance has become a major challenge in our globalised world and tackling it will take the combined resources and effort of researchers working across different disciplines. This meeting will highlight the importance of Big Data and genomics in the fight against AMR. It will showcase recent advances in the rapidly emerging field of machine learning to predict AMR, approaches to monitor and evaluate the global burden of disease, novel technologies for the diagnosis of drug-resistant infections, and the use of pathogen genomics to address critical questions relating to surveillance, epidemiology, transmission and treatment of drug-resistant infections.

For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/antimicrobial-resistance-2018/

20th EMBL PhD Symposium: Game Changers

November 22-24, 2018, EMBL Heidelberg, Germany

Join us for the 20th Anniversary of the annual EMBL PhD Symposium. Since its conception in 1999, the EMBL PhD Symposium has evolved into a highly respected scientific meeting, connecting young researchers and high-profile scientists alike. This year, we invite you to celebrate revolutionary ideas in molecular life sciences and explore the game-changing ideas that are shaping the face of modern science. Come and join us at the 20th EMBL PhD Symposium, for three days of exciting and game-changing science.

For more details, please visit: http://phdsymposium.embl.org/#about

OBM Genetics welcomes the following types of articles: original research, review, communication, opinion, case report, comment, conference report, technical note, book review, etc. There is no restriction on the length of the papers, color figures, supplementary file types. More details please see Instructions for Authors.

Register and Submit now.

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