WES of serrated polyposis syndrome
Samples were obtained from patients diagnosed with serrated polyposis syndrome (SPS). To provide further detail, the dataset comprises two whole-exome sequencing samples from patients within the same family, uploaded in BAM file format with IDs 449758 and 449549. Exomic regions were sequenced using HiSeq2000 Platform (Illumina, San Diego, USA) and Sure SelectXT All Exon v5 kit (Agilent, Santa Clara, CA, USA) for exon enrichment. Only those potentially pathogenic germline genetic variants shared by both individuals were considered.
- 23/12/2024
- 2 samples
- DAC: EGAC50000000466
- Technology: Illumina HiSeq 2000
- RS DUO:0000012 (version: 2021-02-23)research specific restrictionsThis data use modifier indicates that use is limited to studies of a certain research type.
- GSO DUO:0000016 (version: 2021-02-23)genetic studies onlyThis data use modifier indicates that use is limited to genetic studies only (i.e., studies that include genotype research alone or both genotype and phenotype research, but not phenotype research exclusively)
- CC DUO:0000043 (version: 2021-02-23)clinical care useThis data use modifier indicates that use is allowed for clinical use and care.
Data access restriction
Policy for the data access and management of WES of serrated polyposis syndrome sequencing samples
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS50000000765 | Exome Sequencing |