About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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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.

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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

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 Quality Report
Located in
i
EGAF50000104113 fastq.gz 28.1 GB Report
EGAF50000104114 fastq.gz 29.6 GB Report
EGAF50000104115 fastq.gz 32.6 GB Report
EGAF50000104116 fastq.gz 34.7 GB Report
EGAF50000104117 fastq.gz 34.6 GB Report
EGAF50000104118 fastq.gz 32.6 GB Report
EGAF50000104119 fastq.gz 33.7 GB Report
EGAF50000104120 fastq.gz 35.7 GB Report
EGAF50000104121 fastq.gz 30.4 GB Report
EGAF50000104122 fastq.gz 31.2 GB Report
EGAF50000104123 fastq.gz 31.5 GB Report
EGAF50000104124 fastq.gz 32.9 GB Report
EGAF50000104125 fastq.gz 31.2 GB Report
EGAF50000104126 fastq.gz 31.9 GB Report
EGAF50000104127 fastq.gz 29.8 GB Report
EGAF50000104128 fastq.gz 31.5 GB Report
EGAF50000104129 fastq.gz 56.3 GB Report
EGAF50000104130 fastq.gz 60.3 GB Report
EGAF50000104131 fastq.gz 47.1 GB Report
EGAF50000104132 fastq.gz 51.3 GB Report
EGAF50000104133 fastq.gz 51.3 GB Report
EGAF50000104134 fastq.gz 47.0 GB Report
EGAF50000104135 fastq.gz 34.4 GB Report
EGAF50000104136 fastq.gz 36.5 GB Report
EGAF50000104137 fastq.gz 49.4 GB Report
EGAF50000104138 fastq.gz 44.5 GB Report
EGAF50000104139 fastq.gz 28.1 GB Report
EGAF50000104140 fastq.gz 39.4 GB Report
EGAF50000104141 fastq.gz 41.8 GB Report
EGAF50000104142 fastq.gz 44.5 GB Report
EGAF50000104143 fastq.gz 42.3 GB Report
EGAF50000104144 fastq.gz 44.7 GB Report
EGAF50000104145 fastq.gz 42.9 GB Report
EGAF50000104146 fastq.gz 30.0 GB Report
EGAF50000104147 fastq.gz 44.8 GB Report
EGAF50000104148 fastq.gz 42.1 GB Report
EGAF50000104150 bam 523.3 GB Report
EGAF50000104151 bam 278.9 GB Report
EGAF50000104152 bam 906.7 GB Report
EGAF50000104153 bam 903.0 GB Report
EGAF50000104154 bam 654.6 GB Report
EGAF50000104155 bam 273.2 GB Report
EGAF50000104157 bam 645.1 GB Report
EGAF50000104158 bam 853.1 GB Report
44 Files (6.4 TB)