HiDEF-seq single-molecule sequencing of single-strand mismatches and damage
Our study sought to resolve, with single-molecule fidelity, the mismatches and damage events that precede DNA mutations. Using a novel single-molecule, long-read sequencing method (HiDEF-seq) we detect base substitutions when present in either one or both DNA strands. We also detect cytosine deamination, a common type of DNA damage, with single-molecule fidelity. This study profiled 134 samples from diverse tissues, including from individuals with cancer predisposition syndromes. These samples revealed single-strand mismatch and damage signatures. Since double-strand DNA mutations are only the endpoint of the mutation process, our approach enables new studies of how mutations arise in a variety of contexts, especially in cancer and aging.
- 26/04/2024
- 20 samples
- DAC: EGAC00001001816
- Technologies: Illumina NovaSeq 6000, Illumina NovaSeq X, Sequel IIe
Whole genome sequencing data for patients
If you need to request access to this dataset, please contact Uri Tabori, Email: uri.tabori@sickkids.ca
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 |
|---|---|---|
| EGAS50000000318 | Whole Genome Sequencing |
- Fixed a subject ID on the samples list
- Fixed some of the sampling schema to be consistent.
- Updated the description for the BAM files.
- Dataset Released
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF50000104113 | fastq.gz | 28.1 GB | ||
| EGAF50000104114 | fastq.gz | 29.6 GB | ||
| EGAF50000104115 | fastq.gz | 32.6 GB | ||
| EGAF50000104116 | fastq.gz | 34.7 GB | ||
| EGAF50000104117 | fastq.gz | 34.6 GB | ||
| EGAF50000104118 | fastq.gz | 32.6 GB | ||
| EGAF50000104119 | fastq.gz | 33.7 GB | ||
| EGAF50000104120 | fastq.gz | 35.7 GB | ||
| EGAF50000104121 | fastq.gz | 30.4 GB | ||
| EGAF50000104122 | fastq.gz | 31.2 GB | ||
| EGAF50000104123 | fastq.gz | 31.5 GB | ||
| EGAF50000104124 | fastq.gz | 32.9 GB | ||
| EGAF50000104125 | fastq.gz | 31.2 GB | ||
| EGAF50000104126 | fastq.gz | 31.9 GB | ||
| EGAF50000104127 | fastq.gz | 29.8 GB | ||
| EGAF50000104128 | fastq.gz | 31.5 GB | ||
| EGAF50000104129 | fastq.gz | 56.3 GB | ||
| EGAF50000104130 | fastq.gz | 60.3 GB | ||
| EGAF50000104131 | fastq.gz | 47.1 GB | ||
| EGAF50000104132 | fastq.gz | 51.3 GB | ||
| EGAF50000104133 | fastq.gz | 51.3 GB | ||
| EGAF50000104134 | fastq.gz | 47.0 GB | ||
| EGAF50000104135 | fastq.gz | 34.4 GB | ||
| EGAF50000104136 | fastq.gz | 36.5 GB | ||
| EGAF50000104137 | fastq.gz | 49.4 GB | ||
| EGAF50000104138 | fastq.gz | 44.5 GB | ||
| EGAF50000104139 | fastq.gz | 28.1 GB | ||
| EGAF50000104140 | fastq.gz | 39.4 GB | ||
| EGAF50000104141 | fastq.gz | 41.8 GB | ||
| EGAF50000104142 | fastq.gz | 44.5 GB | ||
| EGAF50000104143 | fastq.gz | 42.3 GB | ||
| EGAF50000104144 | fastq.gz | 44.7 GB | ||
| EGAF50000104145 | fastq.gz | 42.9 GB | ||
| EGAF50000104146 | fastq.gz | 30.0 GB | ||
| EGAF50000104147 | fastq.gz | 44.8 GB | ||
| EGAF50000104148 | fastq.gz | 42.1 GB | ||
| EGAF50000104149 | bam | 67.5 GB | ||
| EGAF50000104150 | bam | 523.3 GB | ||
| EGAF50000104151 | bam | 278.9 GB | ||
| EGAF50000104152 | bam | 906.7 GB | ||
| EGAF50000104153 | bam | 903.0 GB | ||
| EGAF50000104154 | bam | 654.6 GB | ||
| EGAF50000104155 | bam | 273.2 GB | ||
| EGAF50000104156 | bam | 85.3 GB | ||
| EGAF50000104157 | bam | 645.1 GB | ||
| EGAF50000104158 | bam | 853.1 GB | ||
| 46 Files (6.6 TB) | ||||