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Fig. 2 | BMC Genomics

Fig. 2

From: nanotatoR: a tool for enhanced annotation of genomic structural variants

Fig. 2

nanotatoR annotates genes overlapping or near a SV: a The cartoon shows three hypothetical scenarios: one deletion in the region upstream of Gene X (yellow) which may contain regulatory regions, indicated as solid purple in the reference genome (top) and lilac in the patient’s genome (bottom); one insertion (green) into Gene Y (blue), and a complete deletion of Gene Z (coral in patient genome). RNA-Seq reads are depicted as blue lines below the genes. b nanotatoR annotation snapshot: nanotatoR annotates the three variants with the overlapping genes and percentage overlap, nearest genes upstream and downstream, distance to the breakpoints in kilobases, BNDB frequency, internal frequency, overlap gene expression value (in transcripts per million or TPM), nearest genes expression in TPM and overlapping genes term from NCBI databases

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