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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

Request Access

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 ( 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 Other

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
EGAF00007680765 bam 4.6 GB
EGAF00007680766 bam 4.4 GB
EGAF00007680767 bam 3.3 GB
EGAF00007680768 bam 5.7 GB
EGAF00007680769 bam 2.8 GB
EGAF00007680770 bam 5.2 GB
EGAF00007680771 bam 3.9 GB
EGAF00007680772 bam 3.6 GB
EGAF00007680773 bam 4.1 GB
EGAF00007680774 bam 3.4 GB
EGAF00007680775 bam 2.8 GB
EGAF00007680776 bam 3.1 GB
EGAF00007680777 bam 5.0 GB
EGAF00007680922 bai 7.2 MB
EGAF00007680923 bai 6.9 MB
EGAF00007680924 bai 7.0 MB
EGAF00007680925 bai 6.7 MB
EGAF00007680926 bai 6.8 MB
EGAF00007680927 bai 7.1 MB
EGAF00007680928 bai 6.7 MB
EGAF00007680929 bai 6.9 MB
EGAF00007680930 bai 6.8 MB
EGAF00007680931 bai 7.1 MB
EGAF00007680932 bai 6.8 MB
EGAF00007680933 bai 7.0 MB
EGAF00007680934 bai 7.0 MB
26 Files (52.0 GB)