Segmental Duplications: Organization and Impact Within the Current Human Genome Project Assembly

Table 3.

BLAST vs. FISH for BACs with Interchromosomal Duplications: Multiple Thresholds for a Postive BLASTSignal

Statistic Minimum sum of bases for positive chromosome
2500 5000 10000 20000 40000
Minimum percent identity for BLASTHSPs 90% BLAST chr number 240 201 148 104 53
% BLAST chr over FISH chr 107%  90%  66%  46% 24%
% FISH chr identified byBLAST  58%  53%  44%  34% 17%
% BLAST chr confirmed by FISH 0.47 0.51 0.59 0.65 0.68
94% Sum ofBLASTNUM 216 183 140  92 52
%BLAST chr over FISH chr  96%  82%  63%  41% 23%
% FISH chr identified byBLAST  54%  50%  43%  30% 17%
% BLAST chr confirmed by FISH  49%  53%  60%  65% 69%
96% BLASTchr number 166 152 118  81 47
%BLAST chr over FISH chr  74%  68%  53%  36% 21%
% FISH chr identified byBLAST  46%  43%  38%  26% 16%
% BLAST chr confirmed by FISH  54%  55%  63%  64% 68%
 98% BLASTchr number 119 105  78  53 36
%BLAST chr over FISH chr  53%  47%  35%  24% 16%
% FISH chr identified byBLAST  36%  33%  25%  19% 13%
% BLAST chr confirmed by FISH  62%  65%  69%  75% 75%
 99% BLASTchr number  70  57  46  39 32
%BLAST chr over FISH chr  31%  25%  21%  17% 14%
% FISH chr identified byBLAST  22%  19%  16%  14% 12%
% BLAST chr confirmed by FISH  63%  68%  72%  77% 81%
  • FISH identified 224 chromosome signals.

  • HSPs were summed within 400-kb sequence segments.

This Article

  1. Genome Res. 11: 1005-1017

Preprint Server