Fig. 3: Expression and pathogenicity of inadequately represented genes. | Genetics in Medicine

Fig. 3: Expression and pathogenicity of inadequately represented genes.

From: Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

Fig. 3

(a) The majority of inadequately represented genes are lowly expressed (TPM < 1) in clinically accessible tissues (CATs), but an average of 217 genes (5.8%) are well expressed (TPM > 10) in at least one inadequately representing CAT. (b) An average of 29.2% of inadequately represented genes are annotated as disease-causing. HGMD Human Gene Mutation Database.

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