Variant calling is a process in bioinformatics that identifies differences in a genomic sequence compared to a reference sequence. These differences, or variants, can include single nucleotide polymorphisms (SNPs), insertions, deletions, and others. Variant calling plays a crucial role in understanding the genetic basis of diseases, among other applications.
GenomePhone is a framework for distributed variant calling. This repository, genomephone-core
, houses the core components of GenomePhone, including the data structures and Terraform modules.
The genomephone-core
provides the foundational elements for GenomePhone, including the data models used to represent genomic data and the Terraform modules used to deploy GenomePhone on a Kubernetes cluster.
The genomephone-core
repository is primarily used as a source of shared resources for other GenomePhone projects. It includes EdgeDB schema definitions for the data models used in GenomePhone, as well as Terraform modules for deploying GenomePhone on a Kubernetes cluster.
We welcome contributions to genomephone-core
! If you have a feature request, bug report, or proposal, please open an issue on this GitHub repository.