GTEx genotype tissue expression eQTL transcriptome gene expression human multi-tissue human transcriptome human genome quantitative trait loci genetic association isoform expression gene eQTL cis-eQTL trans-eQTL splice-QTL splicing protein

Mendelian Inheritance in Man OMIM Mendelian diseases Mendelian disorders genetic diseases genetic disorders genetic disorders in humans genetic phenotypes phenotype and genotype disease models alleles genes dna