scholarly journals Is There a Right Time to Know?: The Right Not to Know and Genetic Testing in Children

2014 ◽  
Vol 42 (1) ◽  
pp. 19-27 ◽  
Author(s):  
Pascal Borry ◽  
Mahsa Shabani ◽  
Heidi Carmen Howard
Keyword(s):  
Genetic Testing ◽  
Human Genome ◽  
New Technologies ◽  
Rapid Development ◽  
Genome Project ◽  
Genomic Research ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Time Required ◽  
The Right

In the last few decades, great progress has been made in both genetic and genomic research. The development of the Human Genome Project has increased our knowledge of the genetic basis of diseases and has given a tremendous momentum to the development of new technologies that make widespread genetic testing possible and has increased the availability of previously inaccessible genetic information. Two examples of this exponential evolution are the increasing implementation of next-generation sequencing technologies in the clinical context and the expanding commercial offer of genetic tests directly-to-consumers.Firstly, the rapid development of next generation sequencing technologies (i.e., high-throughput and massively parallel DNA sequencing technologies) has substantially reduced both the cost and the time required to sequence an entire human genome. These technologies are increasingly being used in the clinical setting with the goal of diagnosing conditions of presumed genetic origin that cannot be explained by targeted sequencing approaches.

Direct-to-Consumer Genetic Testing

2011 ◽  
pp. 51-84 ◽  
Author(s):  
Richard A. Stein
Keyword(s):  
Human Genome ◽  
Human Genome Project ◽  
Cost Effective ◽  
Helical Structure ◽  
Genome Project ◽  
Next Generation ◽  
Double Helical Structure ◽  
Sequencing Technologies ◽  
Human Genome Sequencing ◽  
The Human Genome Project

The 1953 discovery of the DNA double-helical structure by James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin, represented one of the most significant advances in the biomedical world (Watson and Crick 1953; Maddox 2003). Almost half a century after this landmark event, in February 2001, the initial draft sequences of the human genome were published (Lander et al., 2001; Venter et al., 2001) and, in April 2003, the International Human Genome Sequencing Consortium reported the completion of the Human Genome Project, a massive international collaborative endeavor that started in 1990 and is thought to represent the most ambitious undertaking in the history of biology (Collins et al., 2003; Thangadurai, 2004; National Human Genome Research Institute). The Human Genome Project provided a plethora of genetic and genomic information that significantly changed our perspectives on biomedical and social sciences. The sequencing of the first human genome was a 13-year, 2.7-billion-dollar effort that relied on the automated Sanger (dideoxy or chain termination) method, which was developed in 1977, around the same time as the Maxam-Gilbert (chemical) sequencing, and subsequently became the most frequently used approach for several decades (Sanger et al., 1975; Maxam & Gilbert, 1977; Sanger et al., 1977). The new generations of DNA sequencing technologies, known as next-generation (second generation) and next-next-generation (third generation) sequencing, which started to be commercialized in 2005, enabled the cost-effective sequencing of large chromosomal regions during progressively shorter time frames, and opened the possibility for new applications, such as the sequencing of single-cell genomes (Service, 2006; Blow, 2008; Morozova and Marra, 2008; Metzker, 2010).

scholarly journals Recent advances in functional genome analysis

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 1968 ◽  
Author(s):  
Roderic Guigo ◽  
Michiel de Hoon
Keyword(s):  
Functional Genomics ◽  
Human Genome ◽  
Large Scale ◽  
Massively Parallel Sequencing ◽  
Genome Project ◽  
Biological Traits ◽  
Cellular Behavior ◽  
Sequencing Technologies ◽  
Recent Advances ◽  
The Human Genome Project

At the beginning of this century, the Human Genome Project produced the first drafts of the human genome sequence. Following this, large-scale functional genomics studies were initiated to understand the molecular basis underlying the translation of the instructions encoded in the genome into the biological traits of organisms. Instrumental in the ensuing revolution in functional genomics were the rapid advances in massively parallel sequencing technologies as well as the development of a wide diversity of protocols that make use of these technologies to understand cellular behavior at the molecular level. Here, we review recent advances in functional genomic methods, discuss some of their current capabilities and limitations, and briefly sketch future directions within the field.

New technologies or new human rights: the right to a government by humans and the right to one’s own thoughts?

2019 ◽  
Vol 76 ◽  
pp. 283-296
Author(s):  
Ryszard Piotrowski
Keyword(s):  
Artificial Intelligence ◽  
Human Rights ◽  
New Technologies ◽  
Rapid Development ◽  
State Level ◽  
Human Condition ◽  
The Right To Privacy ◽  
Information And Communication ◽  
Court Proceedings ◽  
The Right

The rapid development of information and communication technology has made it imperative that new human rights be spelled out, to cope with an array of expected threats associated with this process. With artificial intelligence being increasingly put to practical uses, the prospect arises of Man’s becoming more and more AI-dependant in multiple walks of life. This necessitates that a constitutional and international dimension be imparted to a right that stipulates that key state-level decisions impacting human condition, life and freedom must be made by humans, not automated systems or other AI contraptions. But if artificial intelligence were to make decisions, then it should be properly equipped with value-based criteria. The culture of abdication of privacy protection may breed consent to the creation and practical use of technologies capable to penetrate an individual consciousness without his or her consent. Evidence based on such thought interference must be barred from court proceedings. Everyone’s right to intellectual identity and integrity, the right to one’s thoughts being free from technological interference, is as essential for the survival of the democratic system as the right to privacy – and it may well prove equally endangered.

scholarly journals Biosemiotics, Bioinformatics, and Responsibility: Ambivalent Consequences of the Deciphering of the Human Genome for Society and Science

1970 ◽  
Vol 5 (2) ◽  
pp. 87-100
Author(s):  
Klaus Fuchs-Kittowski ◽  
Hans-Alfred Rosenthal
Keyword(s):  
Human Genome ◽  
Modern Science ◽  
German Society ◽  
Genome Project ◽  
Genetically Engineered ◽  
Ethical Problems ◽  
New Varieties ◽  
Living Organisms ◽  
The Right ◽  
The Human Genome Project

Deciphering the Human Genome is one of the greatest achievements of modern science. The genetic code shows the importance of semiotics in our understanding of evolution. Biosemiotics as the study of signs, communication and information in living organisms has very much in common with Bioinformatics. Biology, Bioinformatics, and Bio-semiotics meet, but with ambivalent effects on science and society. In the paper we discuss the scientific and social implications, as well as a number of ethical problems. For instance, does the fertilized egg have the right to human dignity? Should pre-implantation diagnostics remain absolutely prohibited in the German society, while abortion of a twelve-week old fetus after counseling is allowed? What are the genetically engineered interventions that make sense from the few point of medicine, and what are those that should be fundamentally rejected? Furthermore, the possibility is being discussed that the human genome project and the considerations accompanying it may eventually initiate new varieties of eugenics and racism (Fuchs-Kittowski, Rosenthal, Rosenthal 2005).

scholarly journals INFLUENCE OF INNOVATIVE ENTREPRENEURSHIP ON THE DEVELOPMENT OF REGIONAL COOPERATION

2021 ◽  
Vol 9 (3) ◽  
pp. 56-60
Author(s):  
Ol'ga Repushevskaya
Keyword(s):  
Marketing Strategy ◽  
Business Model ◽  
Russian Federation ◽  
New Technologies ◽  
Regional Cooperation ◽  
Rapid Development ◽  
Sharing Economy ◽  
Management Model ◽  
The Russian Federation ◽  
The Right

Relevance and novelty of the work. The article is devoted to the implementation of innovative entrepreneurship for the development of regional cooperation and the rapid development of the sharing economy in the Russian Federation. The relevance of this article is due to the need to digitize cooperatives in order to develop, expand the markets for their products. The article examines situations that show how innovative entrepreneurship affects the development of the cooperative sector of the economy. The cooperative management model will be successful when it combines the functions of entrepreneurship, socialization and marketing. The struggle for a buyer in the absence of a marketing strategy in a cooperative is reduced to zero. Therefore, cooperative organizations need to choose the right marketing strategy that will allow them to effectively run their business. A separate place in the article is devoted to the analysis of market dynamics within the framework of the sharing economy. Based on the analysis, the importance of the sharing economy is shown. The basis of the digital economy is the predominance of the share of knowledge and innovation over the sphere of production. For this reason, building a business model is essential. It is necessary to introduce new technologies, at the same time, studying the needs of customers and optimizing activities in all indicators.

scholarly journals Next-Generation Sequencing in Newborn Screening: A Review of Current State

2021 ◽  
Vol 12 ◽  
Author(s):  
Ziga I. Remec ◽  
Katarina Trebusak Podkrajsek ◽  
Barbka Repic Lampret ◽  
Jernej Kovac ◽  
Urh Groselj ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Newborn Screening ◽  
High Throughput Sequencing ◽  
Successful Implementation ◽  
Next Generation ◽  
Screening Programs ◽  
Sequencing Technologies ◽  
Current State ◽  
Time Required ◽  
Generation Sequencing

Newborn screening was first introduced at the beginning of the 1960s with the successful implementation of the first phenylketonuria screening programs. Early expansion of the included disorders was slow because each additional disorder screened required a separate test. Subsequently, the technological advancements of biochemical methodology enabled the scaling-up of newborn screening, most notably with the implementation of tandem mass spectrometry. In recent years, we have witnessed a remarkable progression of high-throughput sequencing technologies, which has resulted in a continuous decrease of both cost and time required for genetic analysis. This has enabled more widespread use of the massive multiparallel sequencing. Genomic sequencing is now frequently used in clinical applications, and its implementation in newborn screening has been intensively advocated. The expansion of newborn screening has raised many clinical, ethical, legal, psychological, sociological, and technological concerns over time. This review provides an overview of the current state of next-generation sequencing regarding newborn screening including current recommendations and potential challenges for the use of such technologies in newborn screening.

scholarly journals Extensive sequencing of seven human genomes to characterize benchmark reference materials

2015 ◽  
Author(s):  
Justin M Zook ◽  
David Catoe ◽  
Jennifer McDaniel ◽  
Lindsay Vang ◽  
Noah Spies ◽  
...  
Keyword(s):  
Human Genome ◽  
Reference Materials ◽  
De Novo ◽  
Variant Calling ◽  
Genome Project ◽  
Genome Comparison ◽  
Personal Genome ◽  
Sequencing Data ◽  
Sequencing Technologies ◽  
Human Genomes

The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials and data for human genome sequencing, as well as methods for genome comparison and benchmarking. Here, we describe a large, diverse set of sequencing data for seven human genomes; five are current or candidate NIST Reference Materials. The pilot genome, NA12878, has been released as NIST RM 8398. We also describe data from two Personal Genome Project trios, one of Ashkenazim Jewish ancestry and one of Chinese ancestry. The data come from 12 technologies: BioNano Genomics, Complete Genomics paired-end and LFR, Ion Proton exome, Oxford Nanopore, Pacific Biosciences, SOLiD, 10X Genomics GemCodeTM WGS, and Illumina exome and WGS paired-end, mate-pair, and synthetic long reads. Cell lines, DNA, and data from these individuals are publicly available. Therefore, we expect these data to be useful for revealing novel information about the human genome and improving sequencing technologies, SNP, indel, and structural variant calling, and de novo assembly.

scholarly journals The History of DNA Sequencing / ISTORIJAT SEKVENCIRANJA DNK

2013 ◽  
Vol 32 (4) ◽  
pp. 301-312 ◽  
Author(s):  
Miodrag Gužvić
Keyword(s):  
Dna Sequencing ◽  
Human Genome ◽  
Genome Project ◽  
Fourth Generation ◽  
Sequencing Technologies ◽  
Current Trends ◽  
Biological Phenomena ◽  
History Of ◽  
Proportional Increase ◽  
The Cost

Summary During the last decade, the cost of DNA sequencing technologies has decreased several orders of magnitude, with the proportional increase of speed and throughput. Human Genome Project took almost 15 years to complete the sequence of the human genome. With the second and third generation technologies, this can be done in the matter of days or hours. This progress and availability of sequencing instruments to virtually every researcher leads to replacing of many techniques with DNA sequencing and opens new venues of research. DNA sequencing is used to investigate basic biological phenomena, and is probably going to be increasingly used in the context of health care (preimplantation diagnostics, oncology, infectious diseases). Current trends are aiming towards the price of 1000$ for sequencing of one human genome. Without any doubt, we can expect improvement of existing and the development of fourth generation technologies in the coming years.

Bringing Next-Generation Sequencing into the Classroom through a Comparison of Molecular Biology Techniques

2014 ◽  
Vol 76 (6) ◽  
pp. 396-401 ◽  
Author(s):  
Bethany Bowling ◽  
Erin Zimmer ◽  
Robert E. Pyatt
Keyword(s):  
Molecular Biology ◽  
Genomic Research ◽  
Classroom Activity ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Nextgen Sequencing ◽  
Interactive Classroom ◽  
Biotechnology Companies ◽  
High Degree ◽  
Generation Sequencing

Although the development of next-generation (NextGen) sequencing technologies has revolutionized genomic research and medicine, the incorporation of these topics into the classroom is challenging, given an implied high degree of technical complexity. We developed an easy-to-implement, interactive classroom activity investigating the similarities and differences between current sequencing methodology and three NextGen technologies. The activity uses existing materials created by each of the biotechnology companies that outline their instrumentation and chemistries. Following this activity, students will understand the molecular biology behind these NextGen applications and the similarities to existing Sanger sequencing methods.

scholarly journals The new technologies of high-throughput single-cell RNA sequencing

2019 ◽  
Vol 23 (5) ◽  
pp. 508-518
Author(s):  
E. A. Vodiasova ◽  
E. S. Chelebieva ◽  
O. N. Kuleshova
Keyword(s):  
Single Cell ◽  
Rna Sequencing ◽  
High Performance ◽  
New Technologies ◽  
Bioinformatics Analysis ◽  
Single Cells ◽  
Rapid Development ◽  
Cell Types ◽  
Regulatory Pathways ◽  
Sequencing Technologies

A wealth of genome and transcriptome data obtained using new generation sequencing (NGS) technologies for whole organisms could not answer many questions in oncology, immunology, physiology, neurobiology, zoology and other fields of science and medicine. Since the cell is the basis for the living of all unicellular and multicellular organisms, it is necessary to study the biological processes at its level. This understanding gave impetus to the development of a new direction – the creation of technologies that allow working with individual cells (single-cell technology). The rapid development of not only instruments, but also various advanced protocols for working with single cells is due to the relevance of these studies in many fields of science and medicine. Studying the features of various stages of ontogenesis, identifying patterns of cell differentiation and subsequent tissue development, conducting genomic and transcriptome analyses in various areas of medicine (especially in demand in immunology and oncology), identifying cell types and states, patterns of biochemical and physiological processes using single cell technologies, allows the comprehensive research to be conducted at a new level. The first RNA-sequencing technologies of individual cell transcriptomes (scRNA-seq) captured no more than one hundred cells at a time, which was insufficient due to the detection of high cell heterogeneity, existence of the minor cell types (which were not detected by morphology) and complex regulatory pathways. The unique techniques for isolating, capturing and sequencing transcripts of tens of thousands of cells at a time are evolving now. However, new technologies have certain differences both at the sample preparation stage and during the bioinformatics analysis. In the paper we consider the most effective methods of multiple parallel scRNA-seq using the example of 10XGenomics, as well as the specifics of such an experiment, further bioinformatics analysis of the data, future outlook and applications of new high-performance technologies.

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