Genetics and Genomic Advances in Rare Diseases and Common Challenges
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (20 January 2025) | Viewed by 1779
Special Issue Editors
2. Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA
3. Department of Neurology, Harvard Medical School, Boston, MA, USA
Interests: rare diseases; whole-genome sequencing; long-read sequencing; structural variants; neurodevelopmental disorders
2. Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA
3. Department of Neurology, Harvard Medical School, Boston, MA, USA
Interests: whole-genome sequencing; chromosomal rearrangements; short tandem repeats; rare disorders
Special Issue Information
Dear Colleagues,
We invite you to submit your articles to this Special Issue, entitled “Genetics and Genomic Advances in Rare Diseases and Common Challenges”.
Genetic and genomic analyses have revolutionized clinical diagnosis for rare disorders, evolving from initial locus identifications to sophisticated technologies such as genome sequencing. Over the last decades, advances in the field have facilitated variant identification and interpretation across many rare diseases. However, these advances present new challenges, including technical limitations that fail to identify certain types of genetic variation, a lack of power for gene discovery efforts due to relatively small cohorts, and the interpretation of variants with uncertain clinical significance.
This Special Issue aims to dissect the latest advances and hurdles in the genetics of rare diseases, emphasizing breakthroughs and limitations encountered in this field. Submissions are encouraged to focus on, but are not limited to, the following areas: advancements in genome sequencing techniques; novel genes and/or variants associated with rare diseases; insights from larger and more diverse disease/reference cohorts; challenges of non-coding variation; as well as the complexities stemming from limited or non-uniform phenotyping.
Authors are invited to submit reviews, original articles, and communications, aiming to pave the way for innovative solutions and advancements in the genetics of rare diseases.
Dr. Alba Sanchis-Juan
Guest Editor
Dr. Nehir E Kurtas
Guest Editor Assistant
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 diseases
- genome sequencing
- long-read sequencing
- structural variants
- short-tandem repeat expansions
- rare variant association analysis
- non-coding variants
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