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1.
J Proteome Res ; 14(6): 2707-13, 2015 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-25873244

RESUMO

The Clinical Proteomic Tumor Analysis Consortium (CPTAC), under the auspices of the National Cancer Institute's Office of Cancer Clinical Proteomics Research, is a comprehensive and coordinated effort to accelerate the understanding of the molecular basis of cancer through the application of proteomic technologies and workflows to clinical tumor samples with characterized genomic and transcript profiles. The consortium analyzes cancer biospecimens using mass spectrometry, identifying and quantifying the constituent proteins and characterizing each tumor sample's proteome. Mass spectrometry enables highly specific identification of proteins and their isoforms, accurate relative quantitation of protein abundance in contrasting biospecimens, and localization of post-translational protein modifications, such as phosphorylation, on a protein's sequence. The combination of proteomics, transcriptomics, and genomics data from the same clinical tumor samples provides an unprecedented opportunity for tumor proteogenomics. The CPTAC Data Portal is the centralized data repository for the dissemination of proteomic data collected by Proteome Characterization Centers (PCCs) in the consortium. The portal currently hosts 6.3 TB of data and includes proteomic investigations of breast, colorectal, and ovarian tumor tissues from The Cancer Genome Atlas (TCGA). The data collected by the consortium is made freely available to the public through the data portal.


Assuntos
Pesquisa Biomédica , Bases de Dados de Proteínas , Proteínas de Neoplasias , Proteômica , Humanos , Armazenamento e Recuperação da Informação , Proteínas de Neoplasias/metabolismo , Neoplasias/genética , Neoplasias/metabolismo
2.
Cancer Epidemiol Biomarkers Prev ; 29(5): 927-935, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32156722

RESUMO

BACKGROUND: The success of multisite collaborative research relies on effective data collection, harmonization, and aggregation strategies. Data Coordination Centers (DCC) serve to facilitate the implementation of these strategies. The utility of a DCC can be particularly relevant for research on rare diseases where collaboration from multiple sites to amass large aggregate datasets is essential. However, approaches to building a DCC have been scarcely documented. METHODS: The Li-Fraumeni Exploration (LiFE) Consortium's DCC was created using multiple open source packages, including LAM/G Application (Linux, Apache, MySQL, Grails), Extraction-Transformation-Loading (ETL) Pentaho Data Integration Tool, and the Saiku-Mondrian client. This document serves as a resource for building a rare disease DCC for multi-institutional collaborative research. RESULTS: The primary scientific and technological objective to create an online central repository into which data from all participating sites could be deposited, harmonized, aggregated, disseminated, and analyzed was completed. The cohort now include 2,193 participants from six contributing sites, including 1,354 individuals from families with a pathogenic or likely variant in TP53. Data on cancer diagnoses are also available. Challenges and lessons learned are summarized. CONCLUSIONS: The methods leveraged mitigate challenges associated with successfully developing a DCC's technical infrastructure, data harmonization efforts, communications, and software development and applications. IMPACT: These methods can serve as a framework in establishing other collaborative research efforts. Data from the consortium will serve as a great resource for collaborative research to improve knowledge on, and the ability to care for, individuals and families with Li-Fraumeni syndrome.


Assuntos
Troca de Informação em Saúde , Cooperação Internacional , Síndrome de Li-Fraumeni/epidemiologia , Doenças Raras/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos de Coortes , Coleta de Dados/métodos , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Carga Global da Doença , Humanos , Lactente , Recém-Nascido , Internet , Síndrome de Li-Fraumeni/genética , Masculino , Pessoa de Meia-Idade , Doenças Raras/genética , Tamanho da Amostra , Proteína Supressora de Tumor p53/genética , Adulto Jovem
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