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. 2012 Nov 30;41(Database issue):D48–D55. doi: 10.1093/nar/gks1236

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© The Author(s) 2012. Published by Oxford University Press.

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Figure 1. — A region of the GRCh37 human assembly showing the complete APBA1 gene. The top panel displays the GRCh37 reference sequence as originally released, and the bottom panel displays the region after the inclusion of the novel patch HSCHR9_1_CTG35. The region of difference is highlighted and marked by the ‘Assembly exception’ track, whereas the pink regions of LASTZ self-alignment provide more details about what has changed in the patch including the addition of new sequence that was missing in the originally released assembly. The green areas show the mapping between the original and the alternative sequences and demonstrate a corrected inversion at the left hand side of the patch. The patch changes the annotation such that the RNA gene RP11-548B3.3 (in purple) moves from 5′ of the APBA1 gene to within the second intron. As can be seen in the right hand side of the figure, the existence of the patch does not alter the annotation downstream of the change. Figure based on http://e68.ensembl.org/Homo_sapiens/Location/Multi?db=core;r=9:72019177-72298831;r1=HSCHR9_1_CTG35:72019384-72307679;s1=Homo_sapiens–HSCHR9_1_CTG35.