Rare Disease Genomics
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Technologies and Resources for Genetics".
Deadline for manuscript submissions: 15 February 2025 | Viewed by 45
Special Issue Editor
Interests: laboratory medicine; genetics and genomics; molecular biology; developmental disability; pharmacogenomics; animal models; clinical trials; hyperphosphatasia with neurologic deficit (Mabry syndrome; MIM: 239300); genetic counseling
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
We invite you to submit your articles to this Special Issue on “Rare Disease Genomics”.
The progress in understanding the genomics of rare diseases has exponentially accelerated since the wide application of next-generation sequencing (NGS), genomic arrays, and epigenetic analyses to studying pedigrees affected by rare disease, building upon decades of clinical practice which defined these Mendelian disorders using transmission patterns and recurrence risk. This better understanding of the molecular genetics of rare disorders is currently revolutionizing the genotype–phenotype correlations and the diagnoses driving novel therapeutic developments.
This Special Issue, entitled “Rare Disease Genomics”, will present original and review articles, impactful case studies, and communications concerning novel molecular and clinical aspects of rare genetic disorders, including but not limited to the following topics: basic research on rare disease genomics, variant interpretation, functional studies of novel variants, animal models, novel diagnostic approaches, genotype–phenotype correlations, and all aspects of the clinical genetics of rare disorders.
Dr. Miles D. Thompson
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- rare disease
- genomics
- deep phenotyping
- variant interpretation
- diagnostics
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