Fig. 1: Using blood RNA-seq to study rare-disease genes. | Nature Medicine

Fig. 1: Using blood RNA-seq to study rare-disease genes.

From: Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Fig. 1

a, Disease categories of sequenced affected patients. The majority of individuals have diseases in the neurology (n = 40), musculoskeletal and orthopedics (n = 8), hematology (n = 8) and ophthalmology (n = 8) categories. b, Percentages of disease genes (from curated lists) expressed in blood. We used the median TPM across 909 DGN samples, 65 PIVUS samples and our 143 samples.

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