Sergi Beltran News Today : Breaking News, Live Updates & Top Stories | Vimarsana

 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 manifestations of kno

Comunidad autonoma de catalunaSergi beltranAnalisis genomicoCentre for genomic regulationInternational rare diseases research consortiumEuropean journalConnect genome phenome analysis platformCentro nacional de analisis genomicoGenomic regulationBioinformatics unitMedicine healthSex linked conditionsகாமுனிடட தன்னாட்சி டி கடலுள்சர்வதேச ரேர் நோய்கள் ஆராய்ச்சி கூட்டமைப்புஐரோப்பிய இதழ்உயிர் தகவலியல் அலகு