A negative storage model for precise but compact storage of genetic variation data.

ABSTRACT: Falling sequencing costs and large initiatives are resulting in increasing amounts of data available for investigator use. However, there are informatics challenges in being able to access genomic data. Performance and storage are well-appreciated issues, but precision is critical for meaningful analysis and interpretation of genomic data. There is an inherent accuracy vs. performance trade-off with existing solutions. The most common approach (Variant-only Storage Model, VOSM) stores only variant data. Systems must therefore assume that everything not variant is reference, sacrificing precision and potentially accuracy. A more complete model (Full Storage Model, FSM) would store the state of every base (variant, reference and missing) in the genome thereby sacrificing performance. A compr

SUBMITTER: Gonzalez-Calderon G 

PROVIDER: S-EPMC7157186 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature