Segmental Dups Track Settings
 
Duplications of >1000 Bases of Non-RepeatMasked Sequence   (track in track configurationAll Variation and Repeats tracks)

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Data last updated: 2008-08-25

Description

This track shows regions detected as putative genomic duplications within the golden path. The following display conventions are used to distinguish levels of similarity:

  • Light to dark gray: 90 - 98% similarity
  • Light to dark yellow: 98 - 99% similarity
  • Light to dark orange: greater than 99% similarity
  • Red: duplications of greater than 98% similarity that lack sufficient Segmental Duplication Database evidence (most likely missed overlaps)
For a region to be included in the track, at least 1 Kb of the total sequence (containing at least 500 bp of non-RepeatMasked sequence) had to align and a sequence identity of at least 90% was required.

Methods

Segmental duplications play an important role in both genomic disease and gene evolution. This track displays an analysis of the global organization of these long-range segments of identity in genomic sequence.

Large recent duplications (>= 1 kb and >= 90% identity) were detected by identifying high-copy repeats, removing these repeats from the genomic sequence ("fuguization") and searching all sequence for similarity. The repeats were then reinserted into the pairwise alignments, the ends of alignments trimmed, and global alignments were generated. For a full description of the "fuguization" detection method, see Bailey et al. (2001) in the References section below. This method has become known as WGAC (whole-genome assembly comparison); for example, see Bailey et al. (2002).

Credits

These data were provided by Ginger Cheng, Xinwei She, Tin Louie and Evan Eichler at the University of Washington.

References

Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE. Recent segmental duplications in the human genome. Science. 2002 Aug 9;297(5583):1003-7.

Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res. 2001 Jun;11(6):1005-17.