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systems biology signaling pathway bioinformatics next genetarion sequencing personalized medicine big data modeling pathways mathematical models biomarkers predictors transcriptomics cancer genomics rare disease metabolic pathways ngs precision medicine rare variants polymorphisms population variability mutations disease genes missing heritability ngs gwas onclology melanoma disease mechanism clinic diagnostic artificial intelligence nipt environment pharmacogenomics data sharing lmics rna-seq electronic health record public health sequencing prsonalized medicine systems medicine mutation load gtex platform clinica ²µ±ð²Ôó³¾¾±³¦²¹ @seisesalud #jisa2016 variant prioritization gene discovery wes p4