Special Issue "Functional Studies for Interpreting Genetic Variants Associated with Genetic Disorders"
Deadline for manuscript submissions: 15 January 2022.
The new high performant sequencing techniques have generated a lot of data about human genome variation. In terms of pathogenicity or benignity, the classification of all gene variants is an important future goal for medical genetics and relevant efforts should be pursued to interpret gene variants associated with genetic disorders. The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) established guidelines for variant interpretation to help variant classification. Variant type, familial inheritance, variant frequency, and prediction tools are essential to assess a gene variant classification. One of the strong criteria included in the ACMG guidelines is based on the characterisation of gene variants by functional studies. Therefore, studies reporting experimental evidence that helps the interpretation and classification of gene variants are critical.
This Special Issue aims to collect research articles and reviews based on functional studies that support the classification of germline gene variants detected in human genetic diseases.
Prof. Dr. Rodolfo Iuliano
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 papers will be 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 2000 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.
- Gene variants
- Functional assay
- Variant interpretation
- Genetic disorders
- Variant effect
- Disease model
- Gene regulation