scholarly journals From Genetics to Genomics of Epilepsy

2012 ◽  
Vol 2012 ◽  
pp. 1-18 ◽  
Author(s):  
Silvio Garofalo ◽  
Marisa Cornacchione ◽  
Alfonso Di Costanzo
Keyword(s):  
Dna Sequencing ◽  
Dna Microarrays ◽  
Molecular Cytogenetics ◽  
Entire Genome ◽  
Sequencing Technologies ◽  
Genomic Approach ◽  
Molecular Karyotype ◽  
High Throughput Dna Sequencing ◽  
Laboratory Technology ◽  
Near Future

The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. Because of the great advancements in molecular genetics and the development of simple laboratory technology to identify the mutations in the causative genes, also the diagnostic approach to epilepsy has significantly changed. However, the clinical use of molecular cytogenetics and high-throughput DNA sequencing technologies, which are able to test an entire genome for genetic variants that are associated with the disease, is preparing a further revolution in the near future. Molecular Karyotype and Next-Generation Sequencing have the potential to identify causative genes or loci also in sporadic or non-familial epilepsy cases and may well represent the transition from a genetic to a genomic approach to epilepsy.

scholarly journals Genetic Biomonitoring and Biodiversity Assessment Using Portable Sequencing Technologies: Current Uses and Future Directions

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 858 ◽  
Author(s):  
Krehenwinkel ◽  
Pomerantz ◽  
Prost
Keyword(s):  
Dna Sequencing ◽  
Biodiversity Loss ◽  
Taxonomic Composition ◽  
Great Promise ◽  
Sequencing Platform ◽  
Biological Communities ◽  
Sequencing Technologies ◽  
Oxford Nanopore ◽  
Sequencing Studies ◽  
High Throughput Dna Sequencing

We live in an era of unprecedented biodiversity loss, affecting the taxonomic composition of ecosystems worldwide. The immense task of quantifying human imprints on global ecosystems has been greatly simplified by developments in high-throughput DNA sequencing technology (HTS). Approaches like DNA metabarcoding enable the study of biological communities at unparalleled detail. However, current protocols for HTS-based biodiversity exploration have several drawbacks. They are usually based on short sequences, with limited taxonomic and phylogenetic information content. Access to expensive HTS technology is often restricted in developing countries. Ecosystems of particular conservation priority are often remote and hard to access, requiring extensive time from field collection to laboratory processing of specimens. The advent of inexpensive mobile laboratory and DNA sequencing technologies show great promise to facilitate monitoring projects in biodiversity hot-spots around the world. Recent attention has been given to portable DNA sequencing studies related to infectious organisms, such as bacteria and viruses, yet relatively few studies have focused on applying these tools to Eukaryotes, such as plants and animals. Here, we outline the current state of genetic biodiversity monitoring of higher Eukaryotes using Oxford Nanopore Technology’s MinION portable sequencing platform, as well as summarize areas of recent development.

scholarly journals Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies

2017 ◽  
Vol 31 (10) ◽  
pp. 1549-1561 ◽  
Author(s):  
Ana Carolina Proença da Fonseca ◽  
Claudio Mastronardi ◽  
Angad Johar ◽  
Mauricio Arcos-Burgos ◽  
Gilberto Paz-Filho
Keyword(s):  
Childhood Obesity ◽  
Dna Sequencing ◽  
High Throughput ◽  
Sequencing Technologies ◽  
High Throughput Dna Sequencing

Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective

2021 ◽  
Vol 238 (03) ◽  
pp. 261-266
Author(s):  
Hanno Jörn Bolz
Keyword(s):  
Dna Sequencing ◽  
Diagnostic Testing ◽  
Retinal Dystrophy ◽  
Current Status ◽  
Monogenic Disorders ◽  
Sequencing Technologies ◽  
Prophylactic Measures ◽  
Rare Gene ◽  
High Throughput Dna Sequencing ◽  
Next Generation Sequencing Ngs

AbstractOver the past decade, novel high-throughput DNA sequencing technologies have revolutionised both research and diagnostic testing for monogenic disorders. This applies particularly to genetically very heterogeneous disorders like retinal dystrophies (RDs). Next-generation sequencing (NGS) today is considered as reliable as Sanger sequencing, which had been the gold standard for decades. Today, comprehensive NGS-based diagnostic testing reveals the causative mutations in the majority of RD patients, with important implications for genetic counselling for recurrence risks and personalised medical management (from interdisciplinary surveillance to prophylactic measures and, albeit yet rare, [gene] therapy). While DNA sequencing is – in most cases – no longer the diagnostic bottleneck, one needs to be aware of interpretation pitfalls and dead ends. The advent of new (NGS) technologies will solve some of these issues. However, specialised medical geneticists who are familiar with the peculiarities of certain RD genes and closely interact with ophthalmologists will remain key to successful RD research and diagnostic testing for the benefit of the patients. This review sheds light on the current state of the field, its challenges and potential solutions.

scholarly journals Do Read Errors Matter for Genome Assembly?

2015 ◽  
Author(s):  
Ilan Shomorony ◽  
Thomas Courtade ◽  
David Tse
Keyword(s):  
Dna Sequencing ◽  
High Throughput ◽  
Error Rate ◽  
Genome Assembly ◽  
Error Rates ◽  
Read Length ◽  
Basic Question ◽  
Sequencing Technologies ◽  
Long Reads ◽  
High Throughput Dna Sequencing

AbstractWhile most current high-throughput DNA sequencing technologies generate short reads with low error rates, emerging sequencing technologies generate long reads with high error rates. A basic question of interest is the tradeoff between read length and error rate in terms of the information needed for the perfect assembly of the genome. Using an adversarial erasure error model, we make progress on this problem by establishing a critical read length, as a function of the genome and the error rate, above which perfect assembly is guaranteed. For several real genomes, including those from the GAGE dataset, we verify that this critical read length is not significantly greater than the read length required for perfect assembly from reads without errors.

Application of high-throughput DNA sequencing technology in forensic genetics

2019 ◽  
Vol 304 ◽  
pp. 64-73
Author(s):  
Anna Woźniak ◽  
◽  
Michał Boroń ◽  
Renata Zbieć-Piekarska ◽  
Magdalena Spólnicka ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
High Throughput ◽  
Cost Reduction ◽  
Forensic Genetics ◽  
Practical Application ◽  
Sequencing Technology ◽  
Sequencing Technologies ◽  
High Throughput Dna Sequencing ◽  
Generation Sequencing ◽  
Forensic Genetic

The turn of the 20th and 21st centuries marks the beginning of high-throughput DNA sequencing methods, which, owing to increasing efficiency and gradual cost reduction, have led to the revolutionization of biomedical research. This article discusses the most popular next generation sequencing technologies and their practical application in forensic genetic analysis.

scholarly journals Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 65
Author(s):  
Patricia Haug ◽  
Samuel Koller ◽  
Jordi Maggi ◽  
Elena Lang ◽  
Silke Feil ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Screening ◽  
De Novo ◽  
Efficient Tool ◽  
Sequencing Technologies ◽  
Whole Exome ◽  
Screening And Identification ◽  
High Throughput Dna Sequencing ◽  
New Mutations

Coloboma and microphthalmia (C/M) are related congenital eye malformations, which can cause significant visual impairment. Molecular diagnosis is challenging as the genes associated to date with C/M account for only a small percentage of cases. Overall, the genetic cause remains unknown in up to 80% of patients. High throughput DNA sequencing technologies, including whole-exome sequencing (WES), are therefore a useful and efficient tool for genetic screening and identification of new mutations and novel genes in C/M. In this study, we analyzed the DNA of 19 patients with C/M from 15 unrelated families using singleton WES and data analysis for 307 genes of interest. We identified seven novel and one recurrent potentially disease-causing variants in CRIM1, CHD7, FAT1, PTCH1, PUF60, BRPF1, and TGFB2 in 47% of our families, three of which occurred de novo. The detection rate in patients with ocular and extraocular manifestations (67%) was higher than in patients with an isolated ocular phenotype (46%). Our study highlights the significant genetic heterogeneity in C/M cohorts and emphasizes the diagnostic power of WES for the screening of patients and families with C/M.

scholarly journals Chemiluminiscence sensor for high-throughput DNA sequencing

2009 ◽  
Vol 1 (1) ◽  
pp. 1091-1094
Author(s):  
A R A Rahman ◽  
Shihui Foo ◽  
Sanket Goel
Keyword(s):  
Dna Sequencing ◽  
High Throughput ◽  
High Throughput Dna Sequencing

scholarly journals Polymorphism discovery and allele frequency estimation using high-throughput DNA sequencing of target-enriched pooled DNA samples

BMC Genomics ◽  
2012 ◽  
Vol 13 (1) ◽  
pp. 16 ◽  
Author(s):  
Michael P Mullen ◽  
Christopher J Creevey ◽  
Donagh P Berry ◽  
Matt S McCabe ◽  
David A Magee ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Allele Frequency ◽  
High Throughput ◽  
Frequency Estimation ◽  
Allele Frequency Estimation ◽  
Polymorphism Discovery ◽  
Pooled Dna ◽  
High Throughput Dna Sequencing

Test genetici e consenso informato

2012 ◽  
pp. 68-95
Author(s):  
Marco Seri ◽  
Claudio Graziano ◽  
Daniela Turchetti ◽  
Juri Monducci
Keyword(s):  
Dna Sequencing ◽  
Human Genetics ◽  
Ethical Issues ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Genome Project ◽  
Ethical Challenges ◽  
Sequencing Technologies ◽  
The Human Genome Project

The pace of discovery in the field of human genetics has increased exponentially in the last 30 years. We have witnessed the completion of the Human Genome Project, the identification of hundreds of disease-causing genes, and the dawn of genomic medicine (clinical care based on genomic information). Reduction of DNA sequencing costs, thanks to the so-called "next generation sequencing" technologies, is driving a shift towards the era of "personal genomes", but scientific as well as ethical challenges ahead are countless. We provide an overview on the classification of genetic tests, on informed consent procedures in the context of genetic counseling, and on specific ethical issues raised by the implementation of new DNA sequencing technologies.

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