| Autor: |
Bahrambeigi, Vahid, Xiaofei Song, Sperle, Karen, Beck, Christine, Hijazi, Hadia, Grochowski, Christopher, Gu, Shen, Seeman, Pavel, Woodward, Karen, Carvalho, Claudia, Hobson, Grace, Lupski, James |
| Rok vydání: |
2019 |
| Předmět: |
|
| DOI: |
10.6084/m9.figshare.11345720 |
| Popis: |
Additional file 1: Figure S1. (S1-1 to S1-6). aCGH and breakpoint junction sequencing results for 30 of the 33 PMD individuals with single duplications at the PLP1 locus. Figure S2. Breakpoint junction sequencing in subject BAB8949 with a single duplication revealed insertions with multiple join-points at the breakpoint junction. Figure S3. Replication errors at the breakpoint junction and/or flanking regions in BAB8929. Figure S4. The aCGH result for BAB8921 showed a 666 Kb single duplication at the PLP1 locus. Figure S5. The distal breakpoint junction points of genomic rearrangements in 28 PMD subjects are grouped within the LCR distal of PLP1. Figure S6. (S6-1 to S6-4). Breakpoint junction analysis indicates that three patients have a directly oriented DUP-NML-DUP pattern of rearrangement. Figure S7. (S7-1 and S7-2). Breakpoint junction analysis indicates that two patients have a DUP–NML–INV/DUP pattern of rearrangement. Figure S8. Three possible rearrangements for the generation of DUP–NML–INV/DUP structures satisfy the breakpoint junctions that we obtained on patients BAB8920 and BAB8934. Figure S9. Three individuals with a DUP-NML-DUP pattern on aCGH (BAB8940, BAB8955, and BAB8960) have the distal duplication and copy neutral region between the two duplications mapping within IRs LCRA1a to LCRA1b. Figure S10. (S10-1 to S10-3). CGRs with DUP-TRP-DUP pattern of rearrangement on aCGH. Figure S11. The most complex rearrangement in this study, DUP-TRP-QUAD, was observed in individual BAB8937. Figure S12. (S12-1 and S12-2). Samples with DUP-NML-DUP-NML-DUP pattern of rearrangement (based on aCGH). Figure S13. One individual, BAB8931, exhibited DUP-NML-DEL pattern of rearrangement. Figure S14. The sequence similarity comparison of reference sequences surrounding join-points. Figure S15. Similarity comparisons of reference sequences surrounding join-points were done after re-analyzing of break-point junction sequences by a retrospective study. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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