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HDBR exome sequencing data (May 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
EGAF00006175639 bam 3.0 GB
EGAF00006175640 bam 3.0 GB
EGAF00006175641 bam 3.0 GB
EGAF00006175642 bam 3.5 GB
EGAF00006175643 bam 3.6 GB
EGAF00006175644 bam 3.4 GB
EGAF00006175645 bam 3.2 GB
EGAF00006175646 bam 3.5 GB
EGAF00006175647 bam 3.8 GB
EGAF00006175648 bam 3.1 GB
EGAF00006175649 bam 3.0 GB
EGAF00006176862 bai 6.7 MB
EGAF00006176868 bai 6.8 MB
EGAF00006176873 bai 6.8 MB
EGAF00006176883 bai 6.7 MB
EGAF00006176884 bai 6.7 MB
EGAF00006176888 bai 6.7 MB
EGAF00006176891 bai 6.7 MB
EGAF00006176895 bai 6.7 MB
EGAF00006176898 bai 6.7 MB
EGAF00006176903 bai 6.8 MB
EGAF00006176904 bai 6.7 MB
22 Files (36.3 GB)