genome-in-a-bottle / HG008-curations

Curations of variants in HG008 tumor/normal pair
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Translocation between chr1:23272628 and chr5:52747359 that causes duplication of first part of chr1 and deletion of chr5q #2

Open jzook opened 4 months ago

jzook commented 4 months ago
Screenshot 2024-05-08 at 6 14 43 PM Screenshot 2024-05-08 at 6 18 28 PM
jzook commented 4 months ago

the chr1/chr5 hybrid seems to be assembled well even in the initial hifiasm assembly at the top of this

Screenshot 2024-05-08 at 8 57 11 PM
jzook commented 3 months ago

Ribbon visualization of initial tumor assembly

Screenshot 2024-05-10 at 9 54 07 PM