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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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