Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
Más filtros













Base de datos
Intervalo de año de publicación
1.
Nat Med ; 30(1): 279-289, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38200255

RESUMEN

The Cancer Programme of the 100,000 Genomes Project was an initiative to provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities for precision cancer care within the UK National Healthcare System (NHS). Genomics England, alongside NHS England, analyzed WGS data from 13,880 solid tumors spanning 33 cancer types, integrating genomic data with real-world treatment and outcome data, within a secure Research Environment. Incidence of somatic mutations in genes recommended for standard-of-care testing varied across cancer types. For instance, in glioblastoma multiforme, small variants were present in 94% of cases and copy number aberrations in at least one gene in 58% of cases, while sarcoma demonstrated the highest occurrence of actionable structural variants (13%). Homologous recombination deficiency was identified in 40% of high-grade serous ovarian cancer cases with 30% linked to pathogenic germline variants, highlighting the value of combined somatic and germline analysis. The linkage of WGS and longitudinal life course clinical data allowed the assessment of treatment outcomes for patients stratified according to pangenomic markers. Our findings demonstrate the utility of linking genomic and real-world clinical data to enable survival analysis to identify cancer genes that affect prognosis and advance our understanding of how cancer genomics impacts patient outcomes.


Asunto(s)
Glioblastoma , Medicina de Precisión , Humanos , Genómica , Oncogenes , Mutación de Línea Germinal/genética
2.
Sci Data ; 10(1): 146, 2023 03 20.
Artículo en Inglés | MEDLINE | ID: mdl-36941292

RESUMEN

Strong statistical capacity is a prerequisite for producing reliable statistics that helps monitor a country's governance and economic performance. This is particularly relevant for a large number of poorer countries, which have weaker statistical capacity but have to rely more on these statistics for various objectives such as monitoring poverty reduction or reporting to international donors. We present the Statistical Performance Indicators and Index (SPI) as the World Bank's new official tool to measure country statistical capacity. The SPI is conceptually motivated, builds on a mathematical foundation, and significantly expands the number of indicators and the number of covered countries compared to its predecessor. The new index has a strong correlation with other common development indicators such as GDP per capita, governance, human capital, poverty, and inequality. It can also accommodate future improvements as the global data landscape evolves.

3.
Patterns (N Y) ; 1(2): 100033, 2020 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-33205100

RESUMEN

Based on keynote at the 4th International Conference on Administrative Data, Cardiff, UK, December 10, 2019.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA