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Background: Congenital cataracts, which can arise due to a combination of factors like environmental influences and genetic predisposition, significantly impact children's visual health globally. The occurrence rate of congenital cataracts varies from 0. 63 to 9.74 per 10,000 births. There are 7.4 instances per 10,000 children, with the highest occurrence seen in Asia. Symptoms of the disease include clouding of the lens and visual impairment. Timely identification of the condition plays a crucial role in the management and outlook of pediatric patients. Objective: This investigation aimed to discover causative mutations in four separate Chinese family lineages. Methods: The detailed clinical data and family history of four Chinese families with autosomal dominant congenital cataracts were carefully documented. Examination of the Whole Exome Sequencing was utilized to identify the genetic anomalies present in the familial cases. Subsequent validation of the identified mutations was carried out using PCR and Sanger sequencing. Following this, various computational predictive programs were utilized to evaluate how the mutations impact the structure and function of the protein. Results: The sequencing results reveal four potential disease-causing mutations: c.436G > A (p.V146M) of CRYBB2 Family 1, c.26G > T (p.R9I) of GJA3 in family 2, c.227G > A (p.R76H) of GJA8 in family 3, c.-168G > T of FTL in family 4. Among them, the causative mutation in Family GJA3 is novel, and Family FTL is a rare cataract syndrome. These familial mutations showed complete co-segregation with the affected individuals, with no presence in unaffected family members or the 100 controls. Several bioinformatic prediction tools also support the likely pathogenicity of these mutations. Conclusion: Our findings expand the mutational and phenotypic spectrum of genes associated with congenital cataracts and provide clues to the pathogenesis of congenital cataracts. These data also demonstrate the importance of NGS technology for the molecular diagnosis of congenital cataract patients. [ABSTRACT FROM AUTHOR]

In humans particularly in children, adenovirus is one of the most common viruses that cause respiratory illnesses. Knowing how to detect adenovirus proficiently and rapidly will help reinforce surveillance of adenovirus infections, detect epidemic situations in real-time, and understand the trend of virus epidemics, which will allow effective actions to be taken quickly. The rapid detection of antiviral antibodies or viral antigens in clinical samples can be achieved by molecular diagnostic techniques like PCR, Real-Time PCR, LAMP, mPCR-RLB, PCR-ELISA, Tem-PCR, Gene Chip, and so on. Some of the molecular diagnostic methods are relatively economical, exceedingly sensitive and explicit. There are several commercially accessible molecular diagnostic techniques that enable their use in clinical laboratories all over the world. In this review, the principles, characteristics, and applications of molecular biology surveillance methods commonly used in labs and clinics for the detection of human adenoviruses are examined and highlighted.

NGS technology is speeding up neurogenetics research, helping to unravel the intricacies associated with it. Neurological disorders are not predictable in the early-stage and different people show different responses to treatment. This difference can be caused by molecular pathways or environmental effects. Therefore, as a first step selecting a correct genetic test for diagnosis is important, which should be customized to fit the disorder. Microarray, single gene analysis and repeat expansion disorders could be used as rapid first-level tests to address these issues. If the associated results are negative, NGS methods such as whole exome sequencing (WES) and whole genome sequencing (WGS) can be considered as second-level testing platforms. WES is most commonly used due to its low associated cost and turnaround time, compared with WGS. However, the overall diagnosis rate remains low, primarily due to challenges associated with the detection of pathogenic mutations, which may be classified as a variant of insignificance. So interpretation of variants as a pathogenic or non-pathogenic become challenging as many variants are unknown or not reported previously. Another issue is that many variants may lie into non-coding regions which comprises 90% of the genome and they can't be captured by short sequencing read technologies. However, over the last decades third generation sequencing emerges to overcome some shortcomings of NGS. Specifically, long read technologies have the potential to identify molecular mechanisms associated with the neurological disorders that are caused by expansion repeats such as Friedreich ataxia, spinocerebellar ataxias, Alzheimer's disease. [ABSTRACT FROM AUTHOR]

The Labroides dimidiatus is known as the “doctor fish” because of its role in removing parasites and infectious pathogens from the body of other fishes. This important role played both in wild and captive conditions could represent a novel form of parasitic transmission process mediated by the cleaning activity of the fish. Yet, there is a paucity of data on the microflora associated with this fish which is important for tracking disease infection and generally monitoring the health status of the fish. This article, therefore, represents the first dataset for the microbiota composition of wild and captive L. dimidiatus. Wild fish samples and carriage water were gotten in Terengganu Malaysia around the corals of the Karah Island. The captive sample, however, was obtained from well-known ornamental fish suppliers in Terengganu Malaysia. Thereafter, bacteria present on the skin, in the stomach and the aquarium water were enumerated using culture-independent approaches and Next Generation Sequencing (NGS) technology. Data obtained from the three metagenomic libraries using NGS analysis gave 1,426,740 amplicon sequence reads which are composed of 508 operational taxonomic units (OTUs) for wild samples and 3,238,564 valid reads and 828 OTUs for captive samples. All sequence reads were deposited in the GeneBank (Accession numbers SAMN14260247, SAMN14260248, SAMN14260249, SAMN14260250, SAMN14260251, and SAMN14260252). The dataset presented is associated with the research article “16S rDNA-Based Metagenomic Analysis of Microbial Communities Associated with Wild Labroides dimidiatus From Karah Island, Terengganu, Malaysia” [1]. The microbiota data presented in this article can be used to monitor the health and wellbeing of the ornamental fish, especially under captivity, hence preventing possible cross-infection.

The Labroides dimidiatus is one of the most traded marine ornamental fishes worldwide, yet not much is known about the microflora associated with this fish. This study is designed to investigate the bacteria composition associated with captive L. dimidiatus and its surrounding aquarium water. The fish and carriage water were obtained from well-known ornamental fish suppliers in Terengganu Malaysia. Bacteria present on the skin and in the stomach and the aquarium water were enumerated using culture-independent approaches and next-generation sequencing (NGS) technology. A total of 3,238,564 valid reads and 828 total operational taxonomic units (OTUs) were obtained from the three metagenomic libraries using NGS analysis. Of all the 15 phyla identified in this study, Proteobacteria, Bacteroidetes, Firmicutes, and Actinobacteria were the most prevalent in all samples. Also, 170 families belonging to 36 bacteria classes were identified. Although many of the bacteria families were common in the skin, gut, and aquarium water (39%), about 26% of the families were exclusive to the aquarium water alone. Therefore, any substantial change in the structure and abundance of microbiota (especially pathogenic bacteria) reported in this study may serve as an early sign for disease infection in the species under captivity. Key points: • Proteobacteria was the most dominant. • The microbiota was either shared or exclusively in samples. [ABSTRACT FROM AUTHOR]

The next-generation sequencing technology is obviously faster than Sanger sequencing technology, and the cost is basically the same. Based on this, we used the next-generation sequencing technology to measure the whole mitochondrial genome sequence of Ammodytes personatus, and compared with Sanger sequencing results. Three samples belonging to two lineages of A. personatus mitochondrial DNA (mtDNA) were used in the study. Based on the complete mtDNA sequence, the genetic distance between the two lineages is 0.064. Results show that the total sequence lengths of the three samples of A. personatus mitochondrial genome are 16,537 bp (AP1), 16,536 bp (AP2) and 16,537 bp (AP3), where the base composition has biases of high A+T and low G+C contents, which are typical to the structural composition of vertebrates. Moreover, the two promoters (ATG, GTG) and four terminators (TAG, AGG, TAA, T or TA) in the 13 protein-coding genes are found. Except for tRNA-Ser(AGN), the secondstructure of other tRNAs is the typical clover structure. The lengths of 12S rRNA and 16S rRNA are 945 and 1,698 bp (AP1, AP2) and 1,696 (AP3). A control region containing key sequence tags have three different domains, namely, terminating sequences (TAS1, TAS2), central conservatives (CSB-F, CSB-E and CSB-D) and conservative sequences (CSB1, CSB2 and CSB3). A conserved sequence region that controls the initiation of light-chain replication is identified in the non-coding region outside the control area. Based on the complete mitochondrial genome and COI gene, we can identify the phylogenetic relationship of A. personatus to other Perciformes species. Our results clearly demonstrate that the highthroughput sequencing method is the methodology of choice for generating complete mtDNA genome sequences. [ABSTRACT FROM AUTHOR]

The blue land crab Cardisoma guanhumi Latreille, 1825 is a highly valued food resource widespread in tropical and subtropical regions of the west Atlantic region. Current overharvesting, however, has played a significant role in stock decline. We describe the development of 12 new microsatellite markers, by next-generation sequencing, for evaluating genetic diversity and population structure across the geographical range of the species. A glimpse into the genetic variation in the Caribbean is also provided. The highly informative nature of these markers was also given by the mean estimate values for allelic richness (A R ), gene diversity, and polymorphic information content (PIC); 3.8, 0.593, 0.518 in Florida and 2.9, 0.450, 0.385 in Puerto Rico. A preliminary genetic diversity analysis revealed high population differentiation between both locations (F ST = 0.310 and D EST = 0.526). PCoA and Bayesian clustering provisionally detected two genetically distinct groups based on the two predefined populations from the Caribbean. [ABSTRACT FROM AUTHOR]

Personalised medicine tumour boards, which leverage genomic data to improve clinical management, are becoming standard for the treatment of many cancers. This paper is designed as a primer to assist clinicians treating head and neck squamous cell carcinoma (HNSCC) patients with an understanding of the discovery and functional impact of recurrent genetic lesions that are likely to influence the management of this disease in the near future. This manuscript integrates genetic data from publicly available array comparative genome hybridization (aCGH) and next-generation sequencing genetics databases to identify the most common molecular alterations in HNSCC. The importance of these genetic discoveries is reviewed and how they may be incorporated into clinical care decisions is discussed. Considerations for the role of genetic stratification in the clinical management of head and neck cancer are maturing rapidly and can be improved by integrating data sets. This article is meant to summarise the discoveries made using multiple genomic platforms so that the head and neck cancer care provider can apply these discoveries to improve clinical care. [ABSTRACT FROM AUTHOR]

Genetically determined hearing loss is a highly heterogeneous disorder, and to date the analysis of its causes has been conducted selectively, covering only individual genes. Breakthroughs associated with current technological advances have contributed to a rapid development in the molecular genetics of hearing loss. Here we review a number of novel and important achievements in the field: application of next-generation sequencing, novel genes, and trends in molecular therapies for hearing loss. Current achievements in the molecular genetics of hearing loss are discussed in the context of previously published results and data from our own studies. [ABSTRACT FROM AUTHOR]

The species Melipona rufiventris Lepeletier, 1836 is a Brazilian native stingless bee that is part of a species complex known as the 'rufiventris group', making it difficult to distinguish between the different species. Populations in this group are facing a severe decline, leading to the risk of local extinction, and therefore, their conservation should be treated as a major concern. This study describes the first set of tri- and tetranucleotide microsatellite markers, using next-generation sequencing technology for use in the identification of genetic diversity and population structure in the 'rufiventris group'. A total of 16 microsatellite loci displayed polymorphism. Analysis of the whole data set (n = 50) detected 63 alleles in all loci, ranging from 2 to 7 with a mean of 3.9 alleles/locus. A genetic diversity analysis revealed high values for population differentiation estimates (FST = 0.252, RST = 0.317, and DEST = 0.284) between the Atlantic Forest, Cerrado, and Caatinga biomes. An additional evidence for genetic divergence among populations was also found in the 'rufiventris group'; these should be treated as separate conservation units or even as separate species. These microsatellite markers have demonstrated a strong potential for assessing population discrimination in this threatened stingless bee group. [ABSTRACT FROM AUTHOR]