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Special Issue "Bioinformatic Analysis for Rare Diseases"
Deadline for manuscript submissions: closed (15 June 2019).
1. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
2. Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Interests: human genomics; disease genomics; bioinformatics; computational biology; machine learning; next-generation sequencing; mutation prediction
Rare diseases, especially Mendelian and monogenic, have played a critical role in elucidating the genetic basis of human diseases. The development of modern techniques such as next generation sequencing (NGS) combined with the increase of computing power and bioinformatic software development has enabled broader-scale research of rare diseases to better understand their biological mechanisms, genomic and proteomic basis, environment, and the combination of these different contributing factors. Therefore, especially in the light of incomplete clinical penetrance, some rare diseases are increasingly viewed as complex diseases. Large volumes of biological data at various levels have been exponentially accumulated over the last decade, including NGS (whole genome/exome sequencing, RNA-seq, DNA methylation), proteomics, and metabolomics. These complex and large data pose challenges for bioinformatic analyses, especially in the interpretation and understanding of biological mechanisms underlying diseases.
In this Special Issue, we will focus on recent development of bioinformatic analysis approaches, computational tools, algorithms, software, and resources for rare diseases. We encourage a broad range of bioinformatic approaches applied to rare diseases: from novel methods to databases, servers, pipelines, integration of several data types, modeling and systems biology, and biological discoveries made by applying these tools. We welcome submissions of reviews, research articles, short communications, and concept papers.
Dr. Yuval Itan
Prof. Hongyan Xu
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 1800 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.
We are happy to offer a 15% discount from our APC to all planned contributions. Please contact and inform [email protected] in advance for this purpose.
- rare diseases
- genomic and proteomic basis
- whole genome sequencing
- whole exome sequencing
- pipelines, software, and resources
- haplotype analysis
- linkage disequilibrium
- single nucleotide polymorphism (SNP)
- variant discovery
- genome-wide association studies (GWAS)
- human rare variants
- gene function discovery