Study
Pediatric tumor in a single child of three large nuclear families
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001005321 | Other |
Study Description
We identify three nuclear families in which a pediatric tumor had been diagnosed in a single child and neither parent had been diagnosed with cancer. These families had 4, 5, and 7 children, respectively. Diagnoses included Wilms tumor, low-grade astrocytoma, and Burkitt’s lymphoma, respectively. We used whole-genome sequencing to profile normal cells from each family member and a linked-read technology for genomic phasing, which enabled us to identify compound-heterozygous and de novo variants in addition to simple-heterozygous and homozygous-alternate variants.
Study Datasets 1 dataset.
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| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001007709 |
We collected saliva samples from three nuclear families having 4, 5, and 7 children, respectively. One child in each nfamily had been diagnosed with a pediatric tumor, and neither parent had been diagnosed with cancer. Diagnoses included Wilms tumor, low-grade astrocytoma, and Burkitt’s lymphoma, respectively. We used whole-genome sequencing to profile normal cells from each family member and a linked-read technology.
|
HiSeq X Ten | 22 |
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