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1.
Brain Nerve ; 71(10): 1071-1079, 2019 Oct.
Artigo em Japonês | MEDLINE | ID: mdl-31588051

RESUMO

Next generation sequencing (NGS) technology has dramatically influenced the field of omics studies, such as genomics and transcriptomics. It is now possible to access a significant number of previously known and novel genomic variants through NGS. Although the effective manipulation and accurate interpretation of the inordinate amount of data may pose a considerable challenge, it enables us to identify specific genes responsible for causing or influencing the susceptibility to a plethora of diseases. Alzheimer's disease (AD) is the most common etiology of dementia in the elderly (approximately 60-70%). The current research trend of AD genetics focuses on the analysis of rare variants (allelic frequency <1%) instead of common variants (allelic frequency >1%) to identify AD-associated genes/variants. A number of genes (such as TREM2, ABCA7, SORL1) that carry rare pathogenic variants have reportedly conferred susceptibility to AD with stronger genetic risk effects (odds ratio >2.0). Here, we are going to introduce a small part of the latest many attractive findings about AD genetic researches.


Assuntos
Doença de Alzheimer/genética , Predisposição Genética para Doença , Transportadores de Cassetes de Ligação de ATP/genética , Alelos , Frequência do Gene , Testes Genéticos , Genômica , Humanos , Proteínas Relacionadas a Receptor de LDL/genética , Glicoproteínas de Membrana/genética , Proteínas de Membrana Transportadoras/genética , Receptores Imunológicos/genética
2.
Yi Chuan ; 41(9): 875-882, 2019 Sep 20.
Artigo em Chinês | MEDLINE | ID: mdl-31549685

RESUMO

The advances in high-throughput technologies have enabled high-speed accumulation of omics data, which contain a large amount of genetic variations and their functional information. The integration and deep utilization of those data will be a long-term and difficult task, which requires highly efficient data storage and powerful data analysis and mining tools. In the past several years, our group has conducted multi-level genomic analyses in several plants, including genome assembly and annotation, comparative and population genomic studies, through collaboration with other labs inside and outside of our institution. Meanwhile, we have integrated a large amount of rice germplasm information and omics data into a structural database and developed related data query, visual display and mining web tools. Here, we summarize some of those results and discuss our next goal to construct an integrated omics knowledgebase for crops to support functional genomics and molecular design breeding.


Assuntos
Produtos Agrícolas/genética , Genômica , Bases de Conhecimento , Oryza/genética
3.
Yi Chuan ; 41(9): 883-892, 2019 Sep 20.
Artigo em Chinês | MEDLINE | ID: mdl-31549686

RESUMO

Metabolomics (defined as comprehensive small molecule chemical analysis), together with genomics, transcriptomics, proteomics and phenomics, now plays a fundamental role in system biological studies. Chromatography- mass spectrometry machines, which have the characteristics of high resolution and high sensitivity, are widely used for metabolomics analysis, both qualitatively and quantitatively. With the fast development of the chromatography-mass spectrometry technology, metabolomics analysis has been successfully applied in various biological research fields. Here, we introduce the different chromatography-mass spectrum machines used for metabolomics analysis and their applications to various biological issues by mainly using the metabolomics platform in Institute of Genetics and Developmental Biology as a case study.


Assuntos
Metabolômica/instrumentação , Metabolômica/tendências , Cromatografia , Genômica , Espectrometria de Massas , Proteômica
7.
Gan To Kagaku Ryoho ; 46(9): 1357-1360, 2019 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-31530770

RESUMO

Cancer gene panel testing has been approved in Japan. Precision medicine will be implemented in Japanese clinical practice. Clinical sequencing is expected to use for treatment decision for each patient. As a predictive biomarker of immune-checkpoint inhibitor(ICI), tumor mutation burden as well as PD-L1 IHC is under evaluating in several clinical settings. MSI-test was approved as companion diagnostics for an ICI. These markers are estimated by the cancer gene panel testing. These genomic testing proceed precision medicine for cancer patients.


Assuntos
Neoplasias , Genômica , Humanos , Japão , Mutação , Neoplasias/genética , Medicina de Precisão
8.
Gan To Kagaku Ryoho ; 46(9): 1361-1366, 2019 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-31530771

RESUMO

This year, the genetic testing for cancer genome medicine approved in Japan, and the clinical basis for this medical area is developed. Focus will likely fall not only on genetic analysis in tissues, but also on genomic analysis by liquid biopsy using patient body fluids such as blood, saliva and urine. The advantages of liquid biopsy are the fact that it is minimally invasive and the possibility of broadening the diagnosis and selection of therapeutic agents, even in cases in which it is difficult to collect tumor tissues. Liquid biopsies of cancer patients will enable, circulating tumor cell(CTC), cell free DNA(cfDNA), circulating tumor cell DNA(ctDNA), exosomes and microRNA(miRNA). The potential usefulness of liquid biopsy for cancer diagnosis, recurrence prediction and monitoring of treatment effect has been mentioned in various manuscripts. In immunotherapy, liquid genetic biomarkers for predicting the therapeutic effect of immune checkpoint inhibitors are under development worldwide. Although issues such as standardization of the measurement methods and the samples used remain, early diagnosis of cancer by liquid biopsy may become a reality in the near future.


Assuntos
Genômica , Biomarcadores Tumorais , Humanos , Imunoterapia , Japão , Biópsia Líquida , Recidiva Local de Neoplasia
10.
Implement Sci ; 14(1): 79, 2019 08 13.
Artigo em Inglês | MEDLINE | ID: mdl-31409417

RESUMO

BACKGROUND: Next-generation sequencing (NGS) is increasingly being translated into routine public health practice, affecting the surveillance and control of many pathogens. The purpose of this scoping review is to identify and characterize the recent literature concerning the application of bacterial pathogen genomics for public health practice and to assess the added value, challenges, and needs related to its implementation from an epidemiologist's perspective. METHODS: In this scoping review, a systematic PubMed search with forward and backward snowballing was performed to identify manuscripts in English published between January 2015 and September 2018. Included studies had to describe the application of NGS on bacterial isolates within a public health setting. The studied pathogen, year of publication, country, number of isolates, sampling fraction, setting, public health application, study aim, level of implementation, time orientation of the NGS analyses, and key findings were extracted from each study. Due to a large heterogeneity of settings, applications, pathogens, and study measurements, a descriptive narrative synthesis of the eligible studies was performed. RESULTS: Out of the 275 included articles, 164 were outbreak investigations, 70 focused on strategy-oriented surveillance, and 41 on control-oriented surveillance. Main applications included the use of whole-genome sequencing (WGS) data for (1) source tracing, (2) early outbreak detection, (3) unraveling transmission dynamics, (4) monitoring drug resistance, (5) detecting cross-border transmission events, (6) identifying the emergence of strains with enhanced virulence or zoonotic potential, and (7) assessing the impact of prevention and control programs. The superior resolution over conventional typing methods to infer transmission routes was reported as an added value, as well as the ability to simultaneously characterize the resistome and virulome of the studied pathogen. However, the full potential of pathogen genomics can only be reached through its integration with high-quality contextual data. CONCLUSIONS: For several pathogens, it is time for a shift from proof-of-concept studies to routine use of WGS during outbreak investigations and surveillance activities. However, some implementation challenges from the epidemiologist's perspective remain, such as data integration, quality of contextual data, sampling strategies, and meaningful interpretations. Interdisciplinary, inter-sectoral, and international collaborations are key for an appropriate genomics-informed surveillance.


Assuntos
Genoma Bacteriano , Genômica/métodos , Prática de Saúde Pública , Humanos , Sequenciamento Completo do Genoma
13.
Science ; 365(6452): 443-444, 2019 08 02.
Artigo em Inglês | MEDLINE | ID: mdl-31371598
14.
Lancet ; 394(10198): 604-610, 2019 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-31395443

RESUMO

Human genomic sequencing has potential diagnostic, prognostic, and therapeutic value across a wide breadth of clinical disciplines. One barrier to widespread adoption is the paucity of evidence for improved outcomes in patients who do not already have an indication for more focused testing. In this Series paper, we review clinical outcome studies in genomic medicine and discuss the important features and key challenges to building evidence for next generation sequencing in the context of routine patient care.


Assuntos
Genômica/métodos , Medicina de Precisão/métodos , Testes Diagnósticos de Rotina , Genoma Humano , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Avaliação de Resultados da Assistência ao Paciente , Padrão de Cuidado
15.
Bioresour Technol ; 291: 121890, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31378447

RESUMO

In recent impetus of phycological research, microalgae have emerged as a potential candidate for various arena of application-driven research. Omics-based tactics are used for disentangling the regulation and network integration for biosynthesis/degradation of metabolic precursors, intermediates, end products, and identifying the networks that regulate the metabolic flux. Multi-omics coupled with data analytics have facilitated understanding of biological processes and allow ample access to diverse metabolic pathways utilized for genetic manipulations making microalgal factories more efficient. The present review discusses state-of-art "Algomics" and the prospect of microalgae and their role in symbiotic association by using omics approaches including genomics, transcriptomics, proteomics and metabolomics. Microalgal based uni- and multi-omics approaches are critically analyzed in wastewater treatment, metal toxicity and remediation, biofuel production, and therapeutics to provide an imminent outlook for an array of environmentally sustainable and economically viable microalgal applications.


Assuntos
Microalgas/metabolismo , Animais , Genômica/métodos , Humanos , Metabolômica , Proteômica , Águas Residuárias/química
18.
Nihon Yakurigaku Zasshi ; 154(2): 78-83, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31406047

RESUMO

Even after entering the era of genomic drug discovery in the 21st century, development of a breakthrough therapeutic drug (first-in-class) for intractable diseases (unmet medical needs) has been extremely difficult, but to the US FDA 62% of the approved first-in-class drugs are found by phenotypic screening. The next-generation zebrafish drug discovery enables high-throughput quantitative live in vivo phenotypic screening, and has been impacting global drug discovery strategies now. Compared to severe immunodeficient mice, zebrafish is expected to become a true individualized medical tool as a clinical ex vivo diagnostic system because of the high efficiency and speed of engraftment of patient-derived cancer xenotransplantation. Phenomics-based personalized medicine with the patient-derived cancer xenograft zebrafish in addition to conventional omics platform of individualized medicine is a true next-generation precision medicine to utilize for selection of therapeutic drugs and decision of their doses for the patient, and emerging paradigm shift is realizing in this century.


Assuntos
Descoberta de Drogas/tendências , Medicina de Precisão/tendências , Animais , Genômica , Humanos , Camundongos , Neoplasias , Estados Unidos , Ensaios Antitumorais Modelo de Xenoenxerto , Peixe-Zebra
19.
Rinsho Ketsueki ; 60(7): 847-853, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31391376

RESUMO

Recent advanced high-throughput sequencing technologies have offered insights into the molecular landscape of acute myeloid leukemia (AML), revealing its genetic heterogeneity. As recurrent alterations should be related to the molecular pathogenesis of AML, assessing the mutation profile of each patient would contribute to the precise molecular diagnosis, precise risk stratification, and appropriate treatment decisions. In fact, the most recent WHO classification and clinical guidelines for AML are categorized by genetic alterations. In addition, serial monitoring of genetic markers could be useful to detect minimal residual disease (MRD) at the time of complete remission as well as clonal changes during the disease course. Because large databases of matched clinical genomics data are needed to use complicated genomic data for clinical decision making, we have been constructing an integrated database of hematological malignancies (knonc) supported by the AMED since 2016. Precision medicine for AML based on genetic information will provide optimal target drugs and useful information for the enhancement of clinical outcome.


Assuntos
Genômica , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapia , Medicina de Precisão , Humanos , Neoplasia Residual/diagnóstico , Neoplasia Residual/genética , Prognóstico
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