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Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe. ....
E-Mail IMAGE: Sergi Beltran and Leslie Matalonga pictured in front of a supercomputer and servers that hosts the RD-Connect GPAP platform. The platform is located at the CNAG-CRG facilities in the Parc. view more Credit: Centro Nacional de Análisis Genómico (CNAG-CRG) Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe. The findings are published today in a series of six papers in the European Journal of Human Genetics. In the main publication, an international consortium, known as Solve-RD, explains how the periodic reanalysis of genomic and phenotypic information from people living with a rare disease can boost the chance of diagnosis when combined with data sharing across European borders on a massive scale. Using this new approach, a preliminary reanalysis of data from 8,393 individuals resulted in 255 new diagnoses, some with atypical ....
Share this article Share this article ResearchAndMarkets.com s offering. The Single-cell Sequencing Services and Technologies Market, 2020-2030 report features an extensive study of the current landscape and the future opportunities associated with single-cell sequencing services/technologies. One of the key objectives of the report was to understand the primary growth drivers and estimate the future opportunity within the market. Based on several parameters, such as number of single-cell samples sequenced annually, average cost of sequencing, and growth trends across various geographies, we have provided an informed estimate of the likely evolution of the market, in the mid to long term, for the period 2020-2030. ....