Version 1 (25k release)

Changelog

• Lossless CRAM replaces the BAM format for reads alignement files
• Sample IDs in CRAM and VCF files are updated to keep only the QPHI unique ID 
• New Individual and cohort-level Quality Control (QC) steps introduced in the QGP Pre-Aggregation QC pipeline V1, to remove samples with sequencing issues
• New file formats are delivered for each release (Plink, Hail, PCs, Relatedness, etc.)
• New variants callers (SV, CNV, PGx, SMN, HLA, STRs, etc.)
• New iterative approache for cohort gVCF aggregation, introduced in the QGP Aggregation pipeline v1.0
• New releases file structure for individual and cohort-level files
• New annotation databases (HGMD pro) added to the msVCF, in addition to standard public annotation databases

Genomes

Genomic data release Version 1 provides germline genomes (WGS) of 24,838 healthy participants, from Qatar BioBank (QBB) population-based cohort. This release is generated using the Aggregation pipeline (v1.0).

As part of this release, we’re providing several data formats, in addition to the multi-sample VCF file, to make it easier and faster for researchers to analyze the cohort. Below are the files included:

In addition to the cohort-level files produced by the Aggregation pipeline, each participant has the following genomic file types, generated by different callers: 

Proteomics : 

Number of participants included in the 25k genomic release and having proteomics data : 2817

Metabolomics

Number of participants included in the 25k genomic release and having metabolomics data : 2877