Genomics in the AWS Cloud: Performing Genome Analysis Using Amazon Web Services enables a person who has moderate familiarity with AWS Cloud to perform full genome analysis and research. Readers will also learn about bioinformatics and AWS. Using the information in this book, users will be able to take a FASTQ file containing raw data from a lab or a BAM file from a service provider, and perform genome analysis on it. They will be able to identify potentially pathogenic gene sequences.
Topics include:
- Introduction to Whole Genome Sequencing (WGS)
- WGS on AWS
- AWS services for genome analysis
- Processing a FASTQ file
- Variant calling
- Structural variants
- GATK Germline
- Analyzing raw data from genomic consumer websites such as Ancestry.com and 23andMe
Some key advantages of using AWS for genomic analysis is to help researchers utilize a wide choice of compute services that can process diverse datasets in analysis pipelines. Genomic sequencers that generate raw data files are located in labs on premises and AWS provides solutions to make it easy for customers to transfer these files to AWS reliably and securely. Storing Genomics and Medical (e.g., imaging) data at different stages requires enormous storage in a cost-effective manner. Amazon Simple Storage Service (Amazon S3), Amazon Glacier and Amazon Elastics Block Store (Amazon EBS) provide the necessary solutions to securely store, manage and scale genomic file storage. Moreover, the storage services can interface with various compute services from AWS to process these files.
Whether you are just getting started or have already been analyzing genomics data using the AWS Cloud, this book provides you with information that you need in order to use AWS services and features in the ways that will make the most sense for your genomic research.
