Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 2.362
Filtrar
1.
Am J Hum Genet ; 108(3): 371-372, 2021 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-33667387

RESUMO

In 2021, the genetics and genomics community needs to communicate to policymakers how the field of human genetics and genomics is transforming biomedical research and medicine, including its essential role in combatting COVID-19. This is important for ensuring that policies enable a thriving scientific enterprise and provide resources for research advances.


Assuntos
Pesquisa Biomédica/tendências , Genética Médica/tendências , Genômica/tendências , Humanos , Pandemias
2.
Am J Hum Genet ; 108(3): 375-382, 2021 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-33667389

RESUMO

This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website.


Assuntos
Genética Médica/tendências , Genômica/tendências , Genética Humana/tendências , Humanos , Estados Unidos
10.
Hum Genomics ; 14(1): 35, 2020 10 02.
Artigo em Inglês | MEDLINE | ID: mdl-33008459

RESUMO

Precision medicine aims to empower clinicians to predict the most appropriate course of action for patients with complex diseases like cancer, diabetes, cardiomyopathy, and COVID-19. With a progressive interpretation of the clinical, molecular, and genomic factors at play in diseases, more effective and personalized medical treatments are anticipated for many disorders. Understanding patient's metabolomics and genetic make-up in conjunction with clinical data will significantly lead to determining predisposition, diagnostic, prognostic, and predictive biomarkers and paths ultimately providing optimal and personalized care for diverse, and targeted chronic and acute diseases. In clinical settings, we need to timely model clinical and multi-omics data to find statistical patterns across millions of features to identify underlying biologic pathways, modifiable risk factors, and actionable information that support early detection and prevention of complex disorders, and development of new therapies for better patient care. It is important to calculate quantitative phenotype measurements, evaluate variants in unique genes and interpret using ACMG guidelines, find frequency of pathogenic and likely pathogenic variants without disease indicators, and observe autosomal recessive carriers with a phenotype manifestation in metabolome. Next, ensuring security to reconcile noise, we need to build and train machine-learning prognostic models to meaningfully process multisource heterogeneous data to identify high-risk rare variants and make medically relevant predictions. The goal, today, is to facilitate implementation of mainstream precision medicine to improve the traditional symptom-driven practice of medicine, and allow earlier interventions using predictive diagnostics and tailoring better-personalized treatments. We strongly recommend automated implementation of cutting-edge technologies, utilizing machine learning (ML) and artificial intelligence (AI) approaches for the multimodal data aggregation, multifactor examination, development of knowledgebase of clinical predictors for decision support, and best strategies for dealing with relevant ethical issues.


Assuntos
Infecções por Coronavirus/genética , Diabetes Mellitus/genética , Neoplasias/genética , Pneumonia Viral/genética , Medicina de Precisão/tendências , Cardiomiopatias , Infecções por Coronavirus/epidemiologia , Análise de Dados , Diabetes Mellitus/epidemiologia , Genômica/tendências , Humanos , Metabolômica/tendências , Neoplasias/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Proteômica/tendências
11.
Nat Genet ; 52(10): 1005-1010, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32929286

RESUMO

Access to medical data is central for conducting research on genomics. However, to tap these metadata (observable traits and phenotypes, diagnoses and medication, and labels), researchers must grapple with the complex and sensitive nature of the information. In this Perspective, we argue that, at this exciting time for genomics and artificial intelligence, several critical aspects of data generation, infrastructure and management are pillars of a modern data ecosystem. Many risks to privacy and many obstacles to medical research can be eliminated or mitigated by new secure data analytics. Finally, we discuss the potential consequences of medical data exiting the institutions and being managed by individuals. These shifts in data ownership have the potential for profound disruption and opportunity across many fields.


Assuntos
Genômica/tendências , Armazenamento e Recuperação da Informação/tendências , Metadados/tendências , Software , Inteligência Artificial , Humanos , Privacidade
12.
Nature ; 583(7818): 693-698, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32728248

RESUMO

The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated with gene regulation (for example, transcription factor binding sites, open chromatin, and histone marks) and transcript isoforms. The marks serve as sites for candidate cis-regulatory elements (cCREs) that may serve functional roles in regulating gene expression1. The project has been extended to model organisms, particularly the mouse. In the third phase of ENCODE, nearly a million and more than 300,000 cCRE annotations have been generated for human and mouse, respectively, and these have provided a valuable resource for the scientific community.


Assuntos
Bases de Dados Genéticas , Genoma/genética , Genômica , Anotação de Sequência Molecular , Animais , Sítios de Ligação , Cromatina/genética , Cromatina/metabolismo , Metilação de DNA , Bases de Dados Genéticas/normas , Bases de Dados Genéticas/tendências , Regulação da Expressão Gênica/genética , Genoma Humano/genética , Genômica/normas , Genômica/tendências , Histonas/metabolismo , Humanos , Camundongos , Anotação de Sequência Molecular/normas , Controle de Qualidade , Sequências Reguladoras de Ácido Nucleico/genética , Fatores de Transcrição/metabolismo
13.
Nat Genet ; 52(7): 646-654, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32601475

RESUMO

The sharing of genomic data holds great promise in advancing precision medicine and providing personalized treatments and other types of interventions. However, these opportunities come with privacy concerns, and data misuse could potentially lead to privacy infringement for individuals and their blood relatives. With the rapid growth and increased availability of genomic datasets, understanding the current genome privacy landscape and identifying the challenges in developing effective privacy-protecting solutions are imperative. In this work, we provide an overview of major privacy threats identified by the research community and examine the privacy challenges in the context of emerging direct-to-consumer genetic-testing applications. We additionally present general privacy-protection techniques for genomic data sharing and their potential applications in direct-to-consumer genomic testing and forensic analyses. Finally, we discuss limitations in current privacy-protection methods, highlight possible mitigation strategies and suggest future research opportunities for advancing genomic data sharing.


Assuntos
Privacidade Genética , Testes Genéticos , Genômica , Disseminação de Informação , Conjuntos de Dados como Assunto , Genética Forense , Pesquisa em Genética , Genômica/tendências , Humanos , Linhagem , Medição de Risco
16.
Fertil Steril ; 113(3): 467-468, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32192587

RESUMO

The field of reproductive medicine is rapidly evolving, and important advances have the potential to profoundly impact the way we care for our patients. Emerging developments, including the application of big data analytics and informatics, the notion of reciprocal diagnosis, insights into applied genetics, and stem cell biological and transplantation experimental advances all have the potential to markedly change our therapeutic approach to patients. This month's "Views and Reviews" collection provides an informative glimpse at these emerging technologies, which promise to substantially impact our field and the way we provide care for our patients.


Assuntos
Infertilidade Masculina/diagnóstico , Infertilidade Masculina/terapia , Invenções/tendências , Medicina Reprodutiva/tendências , Terapias em Estudo/tendências , Animais , Testes Genéticos/métodos , Testes Genéticos/tendências , Genômica/métodos , Genômica/tendências , História do Século XX , História do Século XXI , Humanos , Masculino , Medicina Reprodutiva/história
17.
Hum Reprod Update ; 26(2): 264-301, 2020 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-32096829

RESUMO

BACKGROUND: Successful embryo implantation is a complex process that requires the coordination of a series of events, involving both the embryo and the maternal endometrium. Key to this process is the intricate cascade of molecular mechanisms regulated by endocrine, paracrine and autocrine modulators of embryonic and maternal origin. Despite significant progress in ART, implantation failure still affects numerous infertile couples worldwide and fewer than 10% of embryos successfully implant. Improved selection of both the viable embryos and the optimal endometrial phenotype for transfer remains crucial to enhancing implantation chances. However, both classical morphological embryo selection and new strategies incorporated into clinical practice, such as embryonic genetic analysis, morphokinetics or ultrasound endometrial dating, remain insufficient to predict successful implantation. Additionally, no techniques are widely applied to analyse molecular signals involved in the embryo-uterine interaction. More reliable biological markers to predict embryo and uterine reproductive competence are needed to improve pregnancy outcomes. Recent years have seen a trend towards 'omics' methods, which enable the assessment of complete endometrial and embryonic molecular profiles during implantation. Omics have advanced our knowledge of the implantation process, identifying potential but rarely implemented biomarkers of successful implantation. OBJECTIVE AND RATIONALE: Differences between the findings of published omics studies, and perhaps because embryonic and endometrial molecular signatures were often not investigated jointly, have prevented firm conclusions being reached. A timely review summarizing omics studies on the molecular determinants of human implantation in both the embryo and the endometrium will help facilitate integrative and reliable omics approaches to enhance ART outcomes. SEARCH METHODS: In order to provide a comprehensive review of the literature published up to September 2019, Medline databases were searched using keywords pertaining to omics, including 'transcriptome', 'proteome', 'secretome', 'metabolome' and 'expression profiles', combined with terms related to implantation, such as 'endometrial receptivity', 'embryo viability' and 'embryo implantation'. No language restrictions were imposed. References from articles were also used for additional literature. OUTCOMES: Here we provide a complete summary of the major achievements in human implantation research supplied by omics approaches, highlighting their potential to improve reproductive outcomes while fully elucidating the implantation mechanism. The review highlights the existence of discrepancies among the postulated biomarkers from studies on embryo viability or endometrial receptivity, even using the same omic analysis. WIDER IMPLICATIONS: Despite the huge amount of biomarker information provided by omics, we still do not have enough evidence to link data from all omics with an implantation outcome. However, in the foreseeable future, application of minimally or non-invasive omics tools, together with a more integrative interpretation of uniformly collected data, will help to overcome the difficulties for clinical implementation of omics tools. Omics assays of the embryo and endometrium are being proposed or already being used as diagnostic tools for personalised single-embryo transfer in the most favourable endometrial environment, avoiding the risk of multiple pregnancies and ensuring better pregnancy rates.


Assuntos
Biomarcadores/análise , Implantação do Embrião/fisiologia , Genômica/métodos , Infertilidade/diagnóstico , Infertilidade/terapia , Resultado da Gravidez , Feminino , Genômica/tendências , Humanos , Gravidez , Taxa de Gravidez , Prognóstico , Proteoma/análise , Melhoria de Qualidade , Técnicas de Reprodução Assistida/normas , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...