|
| Status |
Public on Sep 05, 2021 |
| Title |
Case11_remission_sequencing |
| Sample type |
SRA |
| |
|
| Source name |
Case11_remission
|
| Organism |
Homo sapiens |
| Characteristics |
tissue: Unsorted Bone Marrow Cells
cytogenetics: 46,XY[10] .isht(6;14)(q25;q32)
age: 4
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
DNA were extracted from bone marrow cells of patients using All Prep DNA/RNA Mini Kit (Qiagen).
Libraries were prepared using 200 ng of BM genomic DNA following manufacturer’s instructions (SOPHiA Genetics, Saint Sulpice, Switzerland).
probe-based targeted sequencing
|
| |
|
| Library strategy |
OTHER |
| Library source |
genomic |
| Library selection |
other |
| Instrument model |
Illumina MiSeq |
| |
|
| Description |
Case_11 (UPN#261)
|
| Data processing |
FASTQ sequencing files were uploaded to SOPHiA DDM® platform version 4 and, following adapter trimming and quality filtering, reads were aligned to the human reference genome (hg19 assembly) through the artificial SOPHiA™ intelligence.
Variant calling of the resulted alignments was then performed using an in-house somatic variant caller
Genome_build: hg19
Supplementary_files_format_and_content: None
|
| |
|
| Submission date |
Nov 27, 2020 |
| Last update date |
Sep 05, 2021 |
| Contact name |
Danika Di Giacomo |
| E-mail(s) |
danika.digiacomo@unipg.it
|
| Phone |
00390755782624
|
| Organization name |
University of Perugia
|
| Department |
Medicine
|
| Lab |
Molecolare Medicine
|
| Street address |
Piazzale Menghini 0
|
| City |
Perugia |
| ZIP/Postal code |
06132 |
| Country |
Italy |
| |
|
| Platform ID |
GPL15520 |
| Series (2) |
| GSE162282 |
Targeted Sequencing of BCL11B-R patients |
| GSE162283 |
14q32 recombinations deregulating BCL11B mark a distinct Mixed Phenotype Leukemia |
|
| Relations |
| BioSample |
SAMN16946832 |
| SRA |
SRX9599457 |
