Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros










Base de dados
Assunto principal
Intervalo de ano de publicação
1.
Sci Adv ; 10(13): eadk4489, 2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38552014

RESUMO

Uncertainty quantification is crucial to decision-making. A prominent example is probabilistic forecasting in numerical weather prediction. The dominant approach to representing uncertainty in weather forecasting is to generate an ensemble of forecasts by running physics-based simulations under different conditions, which is a computationally costly process. We propose to amortize the computational cost by emulating these forecasts with deep generative diffusion models learned from historical data. The learned models are highly scalable with respect to high-performance computing accelerators and can sample thousands of realistic weather forecasts at low cost. When designed to emulate operational ensemble forecasts, the generated ones are similar to physics-based ensembles in statistical properties and predictive skill. When designed to correct biases present in the operational forecasting system, the generated ensembles show improved probabilistic forecast metrics. They are more reliable and forecast probabilities of extreme weather events more accurately. While we focus on weather forecasting, this methodology may enable creating large climate projection ensembles for climate risk assessment.

2.
Nat Genet ; 51(2): 354-362, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30643257

RESUMO

The human reference genome serves as the foundation for genomics by providing a scaffold for alignment of sequencing reads, but currently only reflects a single consensus haplotype, thus impairing analysis accuracy. Here we present a graph reference genome implementation that enables read alignment across 2,800 diploid genomes encompassing 12.6 million SNPs and 4.0 million insertions and deletions (indels). The pipeline processes one whole-genome sequencing sample in 6.5 h using a system with 36 CPU cores. We show that using a graph genome reference improves read mapping sensitivity and produces a 0.5% increase in variant calling recall, with unaffected specificity. Structural variations incorporated into a graph genome can be genotyped accurately under a unified framework. Finally, we show that iterative augmentation of graph genomes yields incremental gains in variant calling accuracy. Our implementation is an important advance toward fulfilling the promise of graph genomes to radically enhance the scalability and accuracy of genomic analyses.


Assuntos
Genoma Humano/genética , Genômica/métodos , Humanos , Polimorfismo de Nucleotídeo Único/genética , Alinhamento de Sequência/métodos , Análise de Sequência de DNA/métodos , Deleção de Sequência/genética , Sequenciamento Completo do Genoma/métodos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...