Nature Genetics
- 38, 1038 - 1042 (2006)
Published online: 13 August 2006; | doi:10.1038/ng1862
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, Ze Cheng, Regina Regan, Jane A Hurst, Helen Stewart, Sue M Price, Edward Blair, Raoul C Hennekam, Carrie A Fitzpatrick, Rick Segraves, Todd A Richmond, Cheryl Guiver, Donna G Albertson, Daniel Pinkel, Peggy S Eis, Stuart Schwartz, Samantha J L Knight & Evan E Eichler Supplementary Fig. 1 (pdf 1M)
FISH validation of 13 rearrangements detected using the SD BAC array. Supplementary Fig. 2 (pdf 2M)
Parental origin and inversion analysis of the 17q21.31 deletion in the family of IMR103. Supplementary Table 1 (pdf 48K)
A non-redundant set of 130 potential rearrangement hotspots in the human genome. Supplementary Table 2 (pdf 3M)
Copy number variations detected in 269 HapMap samples and in 290 patients with mental retardation using the SD BAC array. Supplementary Table 3 (pdf 20K)
Nine additional rearrangements, including seven of uncertain significance, detected using the SD BAC array in 290 patients with mental retardation. Supplementary Table 4 (pdf 20K)
Comparison of phenotypes between four of the five cases of del 17q21.31 ascertained using the SD BAC array and three previously reported overlapping deletions, plus phenotype details of six further pathogenic rearrangements ascertained using the SD BAC array. Supplementary Table 5 (pdf 24K)
Segmental duplication clusters at five rearragement breakpoints as defined by high-density oligonucleotide array analysis. Supplementary Table 6 (pdf 12K)
PCR primers used in this study.
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