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.

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).

An Overview of Ethics and Public Health Genetics

2019 ◽  
pp. 633-641
Author(s):  
Debra J. H. Mathews
Keyword(s):  
Public Health ◽  
Human Genome ◽  
Large Scale ◽  
Genome Project ◽  
Community Genetics ◽  
Public Health Genetics ◽  
The West ◽  
Genetics And Genomics ◽  
The 1960S ◽  
The Human Genome Project

Public health genetics (more commonly referred to as “community genetics” in Europe) has been practiced to some degree in the West since at least the 1960s, but the development of a cohesive field took time and advances in technology. The application of genetics and genomics to prevent disease and promote public health became firmly established as a field in the late 1990s, as large-scale sequencing of the human genome as part of the Human Genome Project began. The field is now thriving, leading to both tremendous public health benefits and risks for both individuals and populations. This chapter provides an overview of the section of The Oxford Handbook of Public Health Ethics dedicated to public health genetics. The chapters roughly trace the evolution of public health genetics from its roots in eugenics, to the present challenges faced in newborn screening and biobanking, and finally to emerging questions raised by the application of genomics to infectious disease.

scholarly journals Emerging Biosecurity Threats and Responses: A Review of Published and Gray Literature

2021 ◽  
pp. 13-36
Author(s):  
Christopher L. Cummings ◽  
Kaitlin M. Volk ◽  
Anna A. Ulanova ◽  
Do Thuy Uyen Ha Lam ◽  
Pei Rou Ng
Keyword(s):  
World War Ii ◽  
Human Genome ◽  
Large Scale ◽  
Chemical Engineering ◽  
Human Genetics ◽  
Genome Project ◽  
Agricultural Crop ◽  
Crop Selection ◽  
Research Initiatives ◽  
The Human Genome Project

AbstractThe field of biotechnology has been rigorously researched and applied to many facets of everyday life. Biotechnology is defined as the process of modifying an organism or a biological system for an intended purpose. Biotechnology applications range from agricultural crop selection to pharmaceutical and genetic processes (Bauer and Gaskell 2002). The definition, however, is evolving with recent scientific advancements. Until World War II, biotechnology was primarily siloed in agricultural biology and chemical engineering. The results of this era included disease-resistant crops, pesticides, and other pest-controlling tools (Verma et al. 2011). After WWII, biotechnology began to shift domains when advanced research on human genetics and DNA started. In 1984, the Human Genome Project (HGP) was formerly proposed, which initiated the pursuit to decode the human genome by the private and academic sectors. The legacy of the project gave rise to ancillary advancements in data sharing and open-source software, and solidified the prominence of “big science;” solidifying capital-intensive large-scale private-public research initiatives that were once primarily under the purview of government-funded programs (Hood and Rowen 2013). After the HGP, the biotechnology industry boomed as a result of dramatic cost reduction to DNA sequencing processes. In 2019 the industry was globally estimated to be worth $449.06 billion and is projected to increase in value (Polaris 2020).

Gene trap strategies in ES cells

1999 ◽  
Author(s):  
Wolfgang Wurst ◽  
Achim Gossler
Keyword(s):  
Human Genome ◽  
Reporter Gene ◽  
Human Genome Project ◽  
Large Scale ◽  
Es Cells ◽  
Gene Trap ◽  
Genome Project ◽  
Endogenous Gene ◽  
The Human Genome Project

Gene trap (GT) strategies in mouse embryonic stem (ES) cells are increasingly being used for detecting patterns of gene expression (1-4, isolating and mutating endogenous genes (5-7), and identifying targets of signalling molecules and transcription factors (3, 8-10). The general term gene trap refers to the random integration of a reporter gene construct (called entrapment vector) (11, 12) into the genome such that ‘productive’ integration events bring the reporter gene under the transcriptional regulation of an endogenous gene. In some cases this also simultaneously generates an insertional mutation. Entrapment vectors were originally developed in bacteria (13), and applied in Drosophila to identify novel developmental genes and/or regulatory sequences (14-17). Subsequently, a modified strategy was developed for mouse in which the reporter gene mRNA becomes fused to an endogenous transcript. Such ‘gene trap’ vectors were initially used primarily as a tool to discover genes involved in development (1, 2,18). In the last five years there has been a significant shift of GT approaches in mouse to much broader, large scale applications in the context of the analysis of mammalian genomes and ‘functional genomics’. Sequencing and physical mapping of both the human and mouse genomes is expected to be completed within the next five years. Already, a large number of mouse and human genes have been identified as expressed sequence tags (ESTs), and very likely the majority of genes will be discovered as ESTs shortly. This vast sequence information contrasts with a rather limited understanding of the in vivo functions of these genes. Whereas DNA sequence can provide some indication of the potential functions of these genes and their products, their physiological roles in the organism have to be determined by mutational analysis. Thus, the sequencing effort of the human genome project has to be complemented by efficient functional analyses of the identified genes. One potentially powerful complementation to the efforts of the human genome project would be a strategy whereby large scale random mutagenesis in mouse is combined with the rapid identification of the mutated genes (6,7,19, and German gene trap consortium, W. W. unpublished data).

scholarly journals Genomic Medicine

2016 ◽  
Vol 23 (1) ◽  
pp. 21
Author(s):  
Kremema Star ◽  
Barbara Birshtein
Keyword(s):  
Human Genome ◽  
Human Disease ◽  
Human Genome Project ◽  
Large Scale ◽  
New Technologies ◽  
Genomic Medicine ◽  
Genetic Material ◽  
Genome Project ◽  
The Human Genome Project

The human genome project created the field of genomics – understanding genetic material on a large scale. Scientists are deciphering the information held within the sequence of our genome. By building upon this knowledge, physicians and scientists will create fundamental new technologies to understand the contribution of genetics to diagnosis, prognosis, monitoring, and treatment of human disease. The science of genomic medicine has only begun to affect our understanding of health.

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