Bioinformatics and Genetics of Human Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Bioinformatics".

Deadline for manuscript submissions: closed (25 December 2022) | Viewed by 56431

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Special Issue Editors

Prof. Dr. Jinchen Li

Prof. Dr. Jinchen Li


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Guest Editor

Center of Medical Genetics, School of Life Sciences, Central South University, Changsha 410083, China
Interests: genetics and bioinformatics of neuropsychiatric disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue in Genes: Progress in Genetics of Autism

Prof. Dr. Chao Chen

Prof. Dr. Chao Chen


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Co-Guest Editor

Dr. Mingbang Wang

Dr. Mingbang Wang


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Co-Guest Editor

South China Hospital of Shenzhen University, Shenzhen, China
Interests: pediatric disorders; perinatal risk; machine learning; gut microbiota; the role and mechanism of genetic and perinatal risk factors and their interactions in the occurrence of pediatric and psychiatric diseases; application of machine learning, deep learning and other artificial intelligence technology in metagenomics and metabolomics; the role of gut microbiota and metabolites in the perinatal period, newborns, children, and neuropsychiatric diseases

Special Issue Information

Thanks to rapid advances in high-throughput sequencing technology (i.e., whole-exome sequencing), the sharp increase in genome data and methodology have accelerated the identification of candidate genes and associated variants in human genetic diseases. However, the genetic causes in more than half of patients are still unclear. As a scientific community, we must confront these challenges and develop novel bioinformatics methods, tools, or databases to accelerate the prioritization of novel disease-associated variants and genes. We must also deeply investigate the genotype–phenotype correlations for specific genes, variants, or diseases with large sample sizes, assisting in precision medicine of complex human diseases. Recently, an increasing number of studies have demonstrated that human diseases involve noncoding variants, short tandem repeats, transposable elements and so on, providing novel insights for medical genetics in human diseases. In the current scenario of rapid progress, we believe more and more disease-associated variants will be prioritized by whole-genome sequencing and third-generation sequencing in the near future. Specifically, we believe that studies combining omics technologies (genomics, transcriptomics, epigenomics, proteomics, metabolomics, and metagenomics) with biotechnologies (molecular biology, cell biology, neurosciences, and animal model) will provide novel insights into the pathogenesis of human diseases. Researchers are invited to contribute original articles, new methods, or reviews that address current advances in bioinformatics and the genetics of human diseases. If you would like more information about the Special Issue, or have any other questions, please feel free to contact us.

Prof. Dr. Jinchen Li
Prof. Dr. Chao Chen
Dr. Mingbang Wang
Guest Editors

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