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Next Generation Sequencing in Human Disease
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Next Generation Sequencing in Human Disease

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 September 2024) | Viewed by 3266

Special Issue Editor

Dr. Valeria D’Argenio

E-Mail Website
Guest Editor
1. Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, Via di Val Cannuta 247, 00166 Rome, Italy
2. CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy
Interests: next generation sequencing; genomics; cancer genomics; hereditary cancers; metagenomics; human microbiome; molecular diagnostics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It has been more than 20 years since the first Next-Generation Sequencing technology was introduced. NGS is now one of the most widely used methods in studying, diagnosing, and treating a wide range of human diseases, and it has shown to be invaluable in determining the genetic basis of numerous diseases. From finding disease-causing mutations to understanding complicated genomic landscapes, NGS allows researchers and clinicians to unravel complex disease mechanisms with unmatched precision and efficacy. Furthermore, this Special Issue explores the revolutionary impact of NGS on clinical practice, demonstrating how genetic insights obtained from NGS data are changing diagnosis, prognosis, and therapeutic treatments across a wide range of disease spectra.

In summary, the aim of this Special Issue titled “Next Generation Sequencing in Human Disease” is to demonstrate the critical significance of NGS in human disease research and clinical practice. Colleagues are welcome to submit manuscripts containing original studies or reviews in this area.

Dr. Valeria D’Argenio
Guest Editor

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

  • NGS
  • molecular genetics
  • genomics
  • molecular diagnostics
  • targeted sequencing
  • whole-exome sequencing
  • whole-genome sequencing
  • personalized medicine

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Published Papers (2 papers)

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13 pages, 1330 KiB  
Article
Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort
by Naoko Sakuma, Shin-ya Nishio, Shin-ichi Goto, Yohei Honkura, Kiyoshi Oda, Hidehiko Takeda, Marina Kobayashi, Kozo Kumakawa, Satoshi Iwasaki, Masahiro Takahashi, Taku Ito, Yasuhiro Arai, Yasuhiro Isono, Natsuko Obara, Takeshi Matsunobu, Kimihiro Okubo and Shin-ichi Usami
Genes 2024, 15(4), 489; https://doi.org/10.3390/genes15040489 - 12 Apr 2024
Cited by 1 | Viewed by 1385
Abstract
The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of [...] Read more.
The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with PTPRQ-associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profound or severe HL received cochlear implantation, and the postoperative sound field threshold levels and discrimination scores were favorable. These findings will contribute to a greater understanding of the clinical features of PTPRQ-associated HL and may be relevant in clinical practice. Full article
(This article belongs to the Special Issue Next Generation Sequencing in Human Disease)
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9 pages, 2690 KiB  
Brief Report
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred
by Muhammad A. Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I. Majeed, Kausar Malik, Khushbakht Fatima, Asma A. Khan, Zubair M. Ahmed, Sheikh Riazuddin and Saima Riazuddin
Genes 2024, 15(5), 580; https://doi.org/10.3390/genes15050580 - 2 May 2024
Viewed by 1552
Abstract
Intellectual disability (ID), which affects around 2% to 3% of the population, accounts for 0.63% of the overall prevalence of neurodevelopmental disorders (NDD). ID is characterized by limitations in a person’s intellectual and adaptive functioning, and is caused by pathogenic variants in more [...] Read more.
Intellectual disability (ID), which affects around 2% to 3% of the population, accounts for 0.63% of the overall prevalence of neurodevelopmental disorders (NDD). ID is characterized by limitations in a person’s intellectual and adaptive functioning, and is caused by pathogenic variants in more than 1000 genes. Here, we report a rare missense variant (c.350T>C; p.(Leu117Ser)) in HACE1 segregating with NDD syndrome with clinical features including ID, epilepsy, spasticity, global developmental delay, and psychomotor impairment in two siblings of a consanguineous Pakistani kindred. HACE1 encodes a HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 (HACE1), which is involved in protein ubiquitination, localization, and cell division. HACE1 is also predicted to interact with several proteins that have been previously implicated in the ID phenotype in humans. The p.(Leu117Ser) variant replaces an evolutionarily conserved residue of HACE1 and is predicted to be deleterious by various in silico algorithms. Previously, eleven protein truncating variants of HACE1 have been reported in individuals with NDD. However, to our knowledge, p.(Leu117Ser) is the second missense variant in HACE1 found in an individual with NDD. Full article
(This article belongs to the Special Issue Next Generation Sequencing in Human Disease)
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