HDBR exome sequencing data (November 2022)
Exome sequencing data from seven phenotypically abnormal human fetal samples. Anaysis perfomed using Illumina NovaSeq 6000, Twist Bioscience - Human Comprehensive Exome. Paired end fastq files were aligned to hg38 reference genome using BWA-MEM v0.7.15, followed by sorting using SAMtools sort v1.3.1, and duplicate reads marked using Picard Tools MarkDuplicates v2.18.2
- 13 samples
- DAC: EGAC00001002703
- Technology: Illumina NovaSeq 6000
HDBR policy and guidelines on accessing exome sequencing data
Requests for access to the HDBR exome-seq dataset is reviewed by the HDBR data access committee. An application to access the data is made by completing an HDBR Exome-seq Data Access Registration Form, available for download from the HDBR website (https://www.hdbr.org/registration-forms). Once the form has been received by the committee, the data access request will be screened to ensure that the data is being used responsibly and for it's intended purpose. No reasonable request to access the data for scientific or medical research purposes will be denied.
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 |
|---|---|---|
| EGAS00001006300 | Exome Sequencing |
- Nothing has changed to this dataset - a new dataset HDBR Exome sequencing data (August 2024) has been added to teh study EGAS00001006300
- 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.