The scalable variant call representation: enabling genetic analysis beyond one million genomes.

Abstract excerpt

MOTIVATION: The Variant Call Format (VCF) is widely used in genome sequencing but scales poorly. For instance, we estimate a 150 000 genome VCF would occupy 900 TiB, making it costly and complicated to produce, analyze, and store. The issue stems from VCF's requirement to densely represent both reference-genotypes and allele-indexed arrays. These requirements lead to unnecessary data duplication and, ultimately,...

Topics

• Software
• Genomics
• Humans
• Algorithms
• Genetic Variation
• Sequence Analysis, DNA