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Read alignments from short-read (150-bp pared-end, upper) and long-read (PacBio, lower) analysis supporting complex DEL-INV-DUP involving MECP2 in Family 33. Reads are shown in IGV using the collapsed setting. Illumina data are shown using the “view as pairs” option, while PacBio reads are shown using the “link supplementary alignments” option. The SV was called by Manta as a deletion and two overlapping inversions but was missed by Canvas. The transcript shown is GenBank:NM_001110792.2.
#Workflow#Read Alignments#Short Read#Long Read#PacBio#DEL-INV-DUP#MECP2#Family 33#IGV#Illumina#Manta#Canvas#Transcript#GenBank
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