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Extended regions of suspected mis-assembly in the rat reference genome

By Shweta Ramdas, Ayse Bilge Ozel, Mary K Treutelaar, Katie Holl, Myrna Mandel, Leah Solberg Woods, Jun Z Li

Posted 29 May 2018
bioRxiv DOI: 10.1101/332932 (published DOI: 10.1038/s41597-019-0041-6)

We performed whole-genome sequencing for eight inbred rat strains commonly used in genetic mapping studies. They are the founders of the NIH heterogeneous stock (HS) outbred colony. We provide their sequences and variant calls to the rat genomics community. When analyzing the variant calls we identified regions with unusually high levels of heterozygosity. These regions are consistent across the eight inbred strains, including Brown Norway, which is the basis of the rat reference genome. These regions show higher read depths than other regions in the genome and contain higher rates of apparent tri-allelic variant sites. The evidence suggests that these regions may correspond to duplicated segments that were incorrectly overlaid as a single segment in the reference genome. We provide masks for these regions of suspected mis-assembly as a resource for the community to flag potentially false interpretations of mapping or functional results.

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