Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Other members of the AWG, Genotype-Tissue Expression Consortium, National Institutes of Health (NIH) Common Fund, iospecimen Collection Source Site-National Disease Research Interchange, Biospecimen Collection Source Site-Roswell Park Cancer Institute, Biospecimen Core Resource-Van Andel Research Institute, Brain Bank Repository-University of Miami, Leidos Biomedical Project Management, Ethical, Legal, and Social Implications Study, Genome Browser Data Integration, and Visualization-European Bioinformatics Institute, Genome Browser Data Integration and Visualization-Genomics Institute, University of California, Santa Cruz:, LDACC-Analysis Working Group (AWG), Funded Statistical Methods groups-AWG, Enhancing GTEx funded Group, NIH/NHGRI, NIH/NCI, NIH/NIMH, NIH/NIDA

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Biochemistry, Genetics and Molecular Biology