Special Issue "Applications of Next-Generation Sequencing Methods in Pediatrics"

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Global and Public Health".

Deadline for manuscript submissions: 31 December 2021.

Special Issue Editors

Dr. Ioannis Kyriakidis
E-Mail Website
Guest Editor
1. Laboratory of Cytogenetics and Molecular Genetics, Department of Biology, Faculty of Medicine, University of Thessaly, 41110 Larissa, Greece
2. Pediatric and Adolescent Hematology-Oncology Unit, 2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA Hospital, 54636 Thessaloniki, Greece
Interests: childhood cancer; genetics; next-generation sequencing; fungal infections in children; implementation of next-generation sequencing techniques in pediatrics; acute leukemias; autism spectrum
Dr. Pinelopi Samara
E-Mail Website
Guest Editor
Aghia Sophia Children’s Hospital Children’s Oncology Unit “Marianna V. Vardinoyannis-ELPIDA” Bone Marrow Donor Center “Orama Elpidas Association” 8 Levadias str., 11527 Athens, Greece
Interests: apoptosis; infection; cancer biology; immunology of infectious diseases; inflammation; HLA typing; bone marrow transplantation

Special Issue Information

Dear Colleagues,

Forty-four years after the establishment of Sanger sequencing and the consequent Nobel prize, next-generation sequencing (NGS) has demonstrated extraordinary progress. After helping with the completion of the Human Genome Project, several high-throughput sequencing technologies have evolved and become a powerful tool in the clinician’s armamentarium: whole genome sequencing (WGS; which has established the mutation frequency for whole human genomes and led to genome-wide association studies or GWAS) and whole exome sequencing (WES; identifying genetic variants that alter protein sequences at a much lower cost than WGS). Transcriptome analysis by means of RNA-seq facilitates the ability to look at alternative gene spliced transcripts, post-transcriptional modifications, gene fusions, mutations and single-nucleotide polymorphisms (SNPs), and changes in gene expression over time or under different treatments. Moreover, protein–DNA interactions can be investigated through ChIP-seq (chromatin immunoprecipitation combined with massively parallel DNA sequencing to identify the binding sites of DNA-associated proteins). ATAC-seq (Assay for Transposase-Accessible Chromatin using sequencing) uses a hyperactive transposase to generate short-read NGS compatible DNA fragments from regions unprotected by proteins or nucleosomes, while Methyl-seq involves the capture and enrichment of methylated DNA, selective digestion of methylated or unmethylated regions, and/or modification of a methylated base such that it introduces an SNP into the DNA sequence. Altogether, the aforementioned methods have provided great help in understanding the pathogenesis of many diseases.

In general, NGS methods provide researchers and clinicians with a variety of tools to probe genomes in greater depth, leading to an enhanced understanding of how genome sequence variants underlie phenotype and disease. In pediatrics, NGS methods have been utilized in cases of rare genetic disorders, childhood acute lymphoblastic leukemia (ALL) and other cancers, infectious diseases, neurological disorders, developmental delay, and/or intellectual disability.

Utilization of NGS methods in the field of pharmacogenetics has shown that specific genetic alterations can play a crucial role in response and in the occurrence of immediate and long-term complications and comorbidities. Interestingly, application of pharmacogenetic testing in clinical practice has been reported to be responsible for a further 1–3% decrease in childhood ALL mortality.

The credibility and standardization of newer third-generation NGS techniques, along with the potential to manage much shorter read lengths and the notable drop in cost per investigated sample, have made NGS accessible in clinical practice, and thus have brought precision medicine into the spotlight with personalized treatment options and timely diagnosis.

Dr. Ioannis Kyriakidis
Dr. Pinelopi Samara
Guest Editors

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. Children 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 1600 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

  • Next-generation sequencing; Whole genome sequencing; Whole exome sequencing; RNA-seq; ChIP-seq; ATAC-seq; Methyl-seq; Pediatric oncology
  • Acute lymphoblastic leukemia
  • Autism spectrum disorders
  • Infectious diseases
  • Pharmacogenetics
  • Epigenetics

Published Papers

This special issue is now open for submission.
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