Designing architecture for genomics

In this section, we will describe a sample reference architecture for transferring, storing, processing, and gaining insights on genomics datasets on the AWS cloud, in a secure and cost-effective manner. Figure 12.1 shows a sample genomics data processing workflow:

Figure 12.1 – Genomics data processing workflow

Figure 12.1 shows the following workflow:

1. A scientist or a lab technician will collect sample genomic data, for example, skin cells, prepare it in a lab, and then load it into a sequencer.
2. The sequencer will then generate a sequence, which might be short DNA fragments. These are usually called reads because you are reading DNA.
3. The DNA sequence is stored in an on-premises data storage system.
4. The AWS DataSync service will then transfer the genomic data securely to the cloud; for further details, refer to Chapter 2, Data Management and Transfer.
5. The raw genomic data is then stored...