OBM Genetics

(ISSN 2577-5790)

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.

Publication Speed (median values for papers published in 2022): Submission to First Decision: 4 weeks; Submission to Acceptance: 12 weeks; Acceptance to Publication: 13 days (1-2 days of FREE language polishing included)

Current Issue: 2023  Archive: 2022 2021 2020 2019 2018 2017

Special Issue

Clinical Exome Sequencing for Genetic Identification of Mendelian Disorders

Submission Deadline: December 15, 2020 (Open) Submit Now

Guest Editor

Edoardo Errichiello, PhD

Assistant Professor of Medical Genetics, Department of Molecular Medicine, University of Pavia. Via Forlanini 14, 27100, Pavia, Italy

Website | E-Mail

Research Interests: Medical genetics; Cancer genetics; Rare diseases; Cytogenomics; Next generation sequencing

About This Topic

The landscape of genetic diagnostic testing has changed dramatically with the introduction of the clinical exome sequencing, particularly in nonspecific or heterogeneous phenotypes. The main focus of this issue is to highlight the role of clinical exome sequencing not just in postnatal (including cancer syndromes), but also in prenatal (and perinatal) settings, as well as its potentiality in phenotypic expansion and personalised medicine. One secondary target would also be the development of analytical pipelines for the identification of hypomorphic variants and structural variants, including Copy Number Variations (CNVs).