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.
Indexing: DOAJ-Directory of Open Access Journals.
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Rapid publication: manuscripts are undertaken in 8.5 days from acceptance to publication (median values for papers published in this journal in the first half of 2019, 1-2 days of FREE language polishing time is also included in this period).
Clinical Exome Sequencing for Genetic Identification of Mendelian Disorders
Submission Deadline: December 15, 2020 (Open) Submit Now
Edoardo Errichiello, PhD
Assistant Professor of Medical Genetics, Department of Molecular Medicine, University of Pavia. Via Forlanini 14, 27100, Pavia, Italy
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).