QPHI
research

Apply for research

research

Register For Participation

QPHI Advances Precision Health with Release of 25,000 New Genomic Data and New Opportunities for Research Collaborations

6 min read

October 24,2024

Qatar Precision Health Institute embarks on collaboration journey to translate research into tangible, front-line healthcare

6 min read

May 06,2024

QPHI-Qatari (QPHI-P-Q)

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.

QGP Aggregation Pipeline

Version 1.0

The samples that PASS the pre-aggregation QC pipeline (per sample QC) are aggregated into one multi-sample VCF file. Samples are aggregated using Dragen Iterative gVCF genotyper. To accelerate the aggregation and the downstream analyses (parallel processing), the genome is divided into 100 shards. 

QGP Pre-Aggregation QC pipeline (individual level)

Version 1

Each WGS sample is tested independently through this pipeline. If a sample fails the test, it is excluded from the aggregation process and will not be included in the final release. These tests are designed to identify sample swaps, cross-individual contamination, and errors in sample preparation or sequencing. A detailed list of specific QC processes is provided in the table below:

 

Subscribe to