scholarly journals Intellectual disability genomics: current state, pitfalls and future challenges

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Nuno Maia ◽  
Maria João Nabais Sá ◽  
Manuel Melo-Pires ◽  
Arjan P. M. de Brouwer ◽  
Paula Jorge
Keyword(s):  
Intellectual Disability ◽  
Diagnostic Yield ◽  
Massive Parallel Sequencing ◽  
Medical Settings ◽  
Parallel Sequencing ◽  
Functional Studies ◽  
Current State ◽  
Variant Filtering ◽  
International Collaborations ◽  
Future Challenges

AbstractIntellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establishment of the inheritance pattern, often result in a delay in the diagnosis. It has become apparent that massive parallel sequencing can overcome these difficulties. In this review we address: (i) ID genetic aetiology, (ii) clinical/medical settings testing, (iii) massive parallel sequencing, (iv) variant filtering and prioritization, (v) variant classification guidelines and functional studies, and (vi) ID diagnostic yield. Furthermore, the need for a constant update of the methodologies and functional tests, is essential. Thus, international collaborations, to gather expertise, data and resources through multidisciplinary contributions, are fundamental to keep track of the fast progress in ID gene discovery.

Exploring the usefulness of microhaplotypes in forensic identification using massive parallel sequencing technology

2020 ◽  
Vol 140 (1) ◽  
Author(s):  
Chiara Turchi ◽  
Filomena Melchionda ◽  
Mauro Pesaresi ◽  
Eleonora Ciarimboli ◽  
Carla Bini ◽  
...  
Keyword(s):  
Forensic Identification ◽  
Massive Parallel Sequencing ◽  
Sequencing Technology ◽  
Parallel Sequencing

scholarly journals Current State and Challenges of Natural Fibre-Reinforced Polymer Composites as Feeder in FDM-Based 3D Printing

Polymers ◽  
2021 ◽  
Vol 13 (14) ◽  
pp. 2289
Author(s):  
Nishata Royan Rajendran Royan ◽  
Jie Sheng Leong ◽  
Wai Nam Chan ◽  
Jie Ren Tan ◽  
Zainon Sharmila Binti Shamsuddin
Keyword(s):  
Mechanical Properties ◽  
Natural Fibre ◽  
Critical Discussion ◽  
Fused Deposition Modelling ◽  
Preparation Methods ◽  
Fused Deposition ◽  
Current State ◽  
Future Challenges ◽  
Raster Angle ◽  
Fibre Reinforced Polymer

As one of the fastest-growing additive manufacturing (AM) technologies, fused deposition modelling (FDM) shows great potential in printing natural fibre-reinforced composites (NFRC). However, several challenges, such as low mechanical properties and difficulty in printing, need to be overcome. Therefore, the effort to improve the NFRC for use in AM has been accelerating in recent years. This review attempts to summarise the current approaches of using NFRC as a feeder for AM. The effects of fibre treatments, composite preparation methods and addition of compatibilizer agents were analysed and discussed. Additionally, current methods of producing feeders from NFRCs were reviewed and discussed. Mechanical property of printed part was also dependent on the printing parameters, and thus the effects of printing temperature, layer height, infill and raster angle were discussed, and the best parameters reported by other researchers were identified. Following that, an overview of the mechanical properties of these composites as reported by various researchers was provided. Next, the use of optimisation techniques for NFRCs was discussed and analysed. Lastly, the review provided a critical discussion on the overall topic, identified all research gaps present in the use of NFRC for AM processes, and to overcome future challenges.

scholarly journals Massive parallel sequencing in a family with rectal cancer

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Karin Wallander ◽  
Jessada Thutkawkorapin ◽  
Ellika Sahlin ◽  
Annika Lindblom ◽  
Kristina Lagerstedt-Robinson
Keyword(s):  
Rectal Cancer ◽  
Genetic Variant ◽  
Family Members ◽  
Wnt Signaling Pathway ◽  
Massive Parallel Sequencing ◽  
Whole Genome Sequencing Data ◽  
Sequencing Data ◽  
Cancer Syndrome ◽  
Parallel Sequencing ◽  
Missense Variants

Abstract Background We have previously reported a family with a suspected autosomal dominant rectal and gastric cancer syndrome without any obvious causative genetic variant. Here, we focused the study on a potentially isolated rectal cancer syndrome in this family. Methods We included seven family members (six obligate carriers). Whole-exome sequencing and whole-genome sequencing data were analyzed and filtered for shared coding and splicing sequence and structural variants among the affected individuals. Results When considering family members with rectal cancer or advanced adenomas as affected, we found six new potentially cancer-associated variants in the genes CENPB, ZBTB20, CLINK, LRRC26, TRPM1, and NPEPL1. All variants were missense variants and none of the genes have previously been linked to inherited rectal cancer. No structural variant was found. Conclusion By massive parallel sequencing in a family suspected of carrying a highly penetrant rectal cancer predisposing genetic variant, we found six genetic missense variants with a potential connection to the rectal cancer in this family. One of them could be a high-risk genetic variant, or one or more of them could be low risk variants. The p.(Glu438Lys) variant in the CENPB gene was found to be of particular interest. The CENPB protein binds DNA and helps form centromeres during mitosis. It is involved in the WNT signaling pathway, which is critical for colorectal cancer development and its role in inherited rectal cancer needs to be further examined.

scholarly journals Analysis of age-dependent DNA methylation changes in plucked hair samples using massive parallel sequencing

Rechtsmedizin ◽  
2021 ◽  
Author(s):  
Jana Naue ◽  
Julia Winkelmann ◽  
Ulrike Schmidt ◽  
Sabine Lutz-Bonengel
Keyword(s):  
Dna Methylation ◽  
Forensic Genetics ◽  
Methylation Pattern ◽  
Massive Parallel Sequencing ◽  
Degraded Dna ◽  
Tissue Cell ◽  
Sample Type ◽  
Parallel Sequencing ◽  
Hair Samples ◽  
Age Dependent

AbstractThe analysis of age-dependent DNA methylation changes is a valuable tool in epigenetic research and forensic genetics. With some exceptions, most studies in the past concentrated on the analysis of blood, buccal, and saliva samples. Another important sample type in forensic investigations is hair, where age-dependent DNA methylation has not been investigated so far. In this pilot study a deeper look was taken at the possibilities and challenges of DNA methylation analysis in hair. The DNA methylation of selected age-dependent 5’-C-phosphate-G‑3’ (CpG) sites were characterized for their potential use as a biomarker for age prediction using plucked hair samples and massive parallel sequencing. Plucked hair roots of 49 individuals were included in the study. The DNA methylation of 31 hairs was successfully analyzed. The DNA methylation pattern of 10 loci, including ELOVL2, F5, KLF14, and TRIM59, was determined by amplicon-based massive parallel sequencing. Age-dependent changes were found for several markers. The results demonstrate the possible use of already established age-dependent markers but at the same time they have tissue/cell type-specific characteristics. Special challenges such as low amounts of DNA and degraded DNA as well as the possible heterogeneous cellular composition of plucked hair samples, have to be considered.

scholarly journals Optimizing a Massive Parallel Sequencing Workflow for Quantitative miRNA Expression Analysis

PLoS ONE ◽  
2012 ◽  
Vol 7 (2) ◽  
pp. e31630 ◽  
Author(s):  
Francesca Cordero ◽  
Marco Beccuti ◽  
Maddalena Arigoni ◽  
Susanna Donatelli ◽  
Raffaele A. Calogero
Keyword(s):  
Expression Analysis ◽  
Mirna Expression ◽  
Massive Parallel Sequencing ◽  
Parallel Sequencing

scholarly journals Microfluidic PCR Combined with Pyrosequencing for Identification of Allelic Variants with Phenotypic Associations among Targeted Salmonella Genes

2012 ◽  
Vol 78 (20) ◽  
pp. 7480-7482 ◽  
Author(s):  
Min Yue ◽  
Robert Schmieder ◽  
Robert A. Edwards ◽  
Shelley C. Rankin ◽  
Dieter M. Schifferli
Keyword(s):  
Genetic Variation ◽  
Antimicrobial Resistance ◽  
Host Species ◽  
Massive Parallel Sequencing ◽  
Allelic Variants ◽  
Parallel Sequencing ◽  
Content Type ◽  
Potential Applications ◽  
Fimbrial Adhesins ◽  
Diagnostic Microbiology

ABSTRACTA novel targeted massive parallel sequencing approach identified genetic variation in eight known or predicted fimbrial adhesins for 46Salmonellastrains. The results highlight associations between specific adhesin alleles, host species, and antimicrobial resistance. The differentiation of allelic variants has potential applications for diagnostic microbiology and epidemiological investigations.

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