RESUMO
Recent developments have revolutionized the study of biomolecules. Among them are molecular markers, amplification and sequencing of nucleic acids. The latter is classified into three generations. The first allows to sequence small DNA fragments. The second one increases throughput, reducing turnaround and pricing, and is therefore more convenient to sequence full genomes and transcriptomes. The third generation is currently pushing technology to its limits, being able to sequence single molecules, without previous amplification, which was previously impossible. Besides, this represents a new revolution, allowing researchers to directly sequence RNA without previous retrotranscription. These technologies are having a significant impact on different areas, such as medicine, agronomy, ecology and biotechnology. Additionally, the study of biomolecules is revealing interesting evolutionary information. That includes deciphering what makes us human, including phenomena like non-coding RNA expansion. All this is redefining the concept of gene and transcript. Basic analyses and applications are now facilitated with new genome editing tools, such as CRISPR. All these developments, in general, and nucleic-acid sequencing, in particular, are opening a new exciting era of biomolecule analyses and applications, including personalized medicine, and diagnosis and prevention of diseases for humans and other animals.
Assuntos
Genoma , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Análise de Sequência de DNA/métodos , Análise de Sequência de RNA/métodos , Sequenciamento Completo do Genoma/métodos , Animais , Sequência de Bases , DNA/química , Genômica/história , Sequenciamento de Nucleotídeos em Larga Escala/história , Sequenciamento de Nucleotídeos em Larga Escala/instrumentação , História do Século XX , História do Século XXI , Humanos , RNA Mensageiro/química , Análise de Sequência de DNA/história , Análise de Sequência de DNA/instrumentação , Análise de Sequência de RNA/história , Análise de Sequência de RNA/instrumentação , Sequenciamento Completo do Genoma/história , Sequenciamento Completo do Genoma/instrumentaçãoRESUMO
Whole-genome sequencing (WGS) is increasingly used by food regulatory and public health agencies in the United States to facilitate the detection, investigation, and control of foodborne bacterial outbreaks, and food regulatory and other activities in support of food safety. WGS has added a level of precision to the surveillance leading to faster and more efficient decision making in the preparedness and response to foodborne infections. In this review, we report the history of WGS technology at the Centers for Disease Control & Prevention (CDC), the Food and Drug Administration (FDA), and the United States Department of Agriculture's Food Safety and Inspection Service (USDA/FSIS) as it applies to food safety. The basic principle of the method, the analysis, and interpretation of the data are explained as is its major strengths and limitations. We also describe the benefits and possibilities of the WGS technology to the food industry throughout the farm-to-fork continuum and the prospects of metagenomic sequencing applied directly to the sample specimen with or without pre-enrichment culture.
Assuntos
Inocuidade dos Alimentos , Doenças Transmitidas por Alimentos/microbiologia , Vigilância em Saúde Pública , Saúde Pública , Sequenciamento Completo do Genoma/história , Surtos de Doenças/prevenção & controle , História do Século XX , História do Século XXI , Humanos , Estados Unidos , United States Government AgenciesRESUMO
David Ferrier is a Reader at the University of St Andrews and Deputy Director of the Scottish Oceans Institute, where his lab studies how the diversity of form in the animal kingdom evolved, with an emphasis on using comparative genomics. In this interview, David shares his thoughts on how to escape the 'straitjacket' of traditional model systems, transparency in peer review, and the past and future of genome sequencing.
Assuntos
Organismos Aquáticos/genética , Biodiversidade , Evolução Biológica , Genômica/métodos , Sequenciamento Completo do Genoma/história , História do Século XXI , Revisão da Pesquisa por Pares , EscóciaAssuntos
Genoma Humano , Genômica/história , Medicina de Precisão/história , Sequenciamento Completo do Genoma/história , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla/história , Genômica/educação , História do Século XX , História do Século XXI , Humanos , Fenótipo , Fatores de RiscoRESUMO
PURPOSE OF REVIEW: The purpose of this review is to summarize the development and recent advancements of newborn screening. RECENT FINDINGS: Early initiation of medical care has modified the outcome for many disorders that were previously associated with high morbidity (such as cystic fibrosis, primary immune deficiencies, and inborn errors of metabolism) or with significant neurodevelopmental disabilities (such as phenylketonuria and congenital hypothyroidism). The new era of mass spectrometry and next generation sequencing enables the expansion of the newborn screen panel, and will help to address technical issues such as turnaround time, and decreasing false-positive and false-negative rates for the testing. SUMMARY: The newborn screening program is a successful public health initiative that facilitates early diagnosis of treatable disorders to reduce long-term morbidity and mortality.
