The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes

Area of Science:

• Genomics
• Bioinformatics
• Computational Biology

Background:

• The Variant Call Format (VCF) is a standard for storing genomic variation data.
• Current VCF implementations exhibit poor scalability, leading to extremely large files (e.g., 900 TiB for 150,000 genomes).
• This inefficiency hinders the cost-effective production and analysis of large-scale genetic datasets.

Conclusions:

• SVCR provides a scalable solution for variant call data, overcoming limitations of traditional VCF.
• VDS, an implementation of SVCR, facilitates efficient analysis of large genomic datasets.
• These advancements are crucial for the scientific community to manage and analyze genomics data at the scale of millions of samples.