Somatic and germline mutation of dMMR metastatic colorectal cancer
| Title | Somatic and germline mutation of dMMR metastatic colorectal cancer |
|---|---|
| Description | WES was performed according to published procedures at GenomiCare Biotechnology, Shanghai. After extraction, DNA was fragmented by sonication, and the exons were captured by using the SureSelect XT Human All Exon V7 kit The libraries were sequenced on a NovaSeq 6000 Sequencing System (Illumina) in PE150 mode. The sequencing depth was ~285X for tumors and ~150X for normal tissues. The obtained reads were first checked by fastqc and aligned to the hg19 reference human genome with the Burrows-Wheeler Aligner (BWA) algorithm, and were further processed with the Sentieon console which hosted modules for single-nucleotide variant (SNV), indel, and copy number variation (CNV) determination. Candidate mutations were annotated using the Variant Effect Predictor (VEP) package. Somatic mutations were determined by comparison between the tumor and paired peripheral whole blood samples. Germline variants were defined as rare variants in peripheral whole blood detected by WES byand GATK HaplotypeCaller. |
| Organism | Homo sapiens |
| Data Type | Other Type of Genomic Data |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA023640 |
| Release Date | 2024-05-31 |
| Submitter | Yanhong Deng (dengyanh@mail.sysu.edu.cn) |
| Organization | The Sixth Affiliated Hospital of Sun Yat-sen University |
| Submission Date | 2024-02-19 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX005849-01 | Somatic Mutation Profile | 20 | Other Type of Genomic Data | 3.2 MB | xlsx | 0 | Controlled |
| OMIX005849-02 | Germline Mutation Profile | 20 | Other Type of Genomic Data | 6.9 MB | xlsx | 0 | Controlled |