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Transforming Healthcare: Qatar Precision Health Institute's Innovative Approach to Precision Medicine Highlighted in Documentary Series by Reuters

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

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

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. 

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