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Calculation of 15,000 Human Genomes using GCP
Case studies

Challenge

The R&D company needed experts in GCP and genotyping to process terabytes of human genome data and compare it with reference sequences. This would help speed up the discovery phase. 

Solution

To support the project, Quantori Team introduced the GCP infrastructure and the Terra Baer portal environment. Next, we evaluated cutting-edge bioinformatics technologies, including DRAGEN, DeepVariant, and GATK. We established a pipeline to retrieve data from Answer ALS and the 1000 Genomes Project (1KGP) and input it into GATK in GVCF format, streamlining the data processing workflow.

Outcome

We implemented a high-performance joint genotyping pipeline, resulting in the successful genotyping of approximately 5,000 genomes from Answer ALS and the 1000 Genomes Project (1KGP).

GCP
Cloud Engineering
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