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Frontiers in Rare Disease Genetics

Edited by:
Murim Choi, PhD, Seoul National University, The Republic of Korea

Submission Status: Open   |   Submission Deadline: 31 August 2024 


Genomics & Informatics is calling for submissions to our Collection on the latest research in the field of rare disease studies, encompassing genomics and bioinformatics analyses.

Image credits: Kowit / stock.adobe.com

About the Collection

Rare diseases, despite their individual rarity, collectively affect millions worldwide, posing significant challenges to diagnosis, treatment, and understanding. Genomics and bioinformatics play crucial roles in unravelling the genetic underpinnings of these diseases, aiding in the identification of causative mutations, elucidation of disease mechanisms, and development of targeted therapies.

G&I invites researchers and experts in the field to contribute their latest findings and insights to this collection entitled 'Frontiers in Rare Disease Genetics,' edited by Dr. Murim Choi, vice-editor-in-chief. We encourage submissions that push the boundaries of knowledge in rare disease genetics.

To facilitate the dissemination of impactful research, selected articles may have their publication fees covered by the Korea Genome Organization (KOGO).

Join us in advancing rare disease research and fostering collaboration within the scientific community!

Meet the Guest Editor

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Murim Choi, PhD, Seoul National University, Rep. of Korea

Murim Choi is a professor in the Department of Biomedical Sciences, Seoul National University College of Medicine. His main scientific interest is to understand genetic mechanisms of human diseases through profiling individual-level genome variations.

There are currently no articles in this collection.

Submission Guidelines

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This Collection welcomes submission of research and review articles. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal. 

Articles for this Collection should be submitted via our submission system, Snapp. Please, select the appropriate Collection title “Frontiers in Rare Disease Genetics" under the “Details” tab during the submission stage.

Articles will undergo the journal’s standard peer-review process and are subject to all the journal’s standard policies. Articles will be added to the Collection as they are published.

The Editors have no competing interests with the submissions which they handle through the peer-review process. The peer-review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.