T/LTIA 14-2021 Low-depth whole-genome resequencing genotype inference and genetic variation interpretation general requirements
T/LTIA 14-2021 Low-depth whole-genome resequencing genotype inference and genetic variation interpretation general requirements
Basic Information
Scope
Scope: This document specifies the requirements for quality control of sequencing data, genotype inference techniques, and interpretation of genetic variants in low-depth whole-genome resequencing. This document applies to a range of species, including humans, animals, and plants, for which internationally standardized reference genomes have been established. It is intended for the analysis of genome data with an average sequencing depth of less than 10X in whole-genome resequencing, for genotype inference and interpretation of genetic variants in individuals. This document does not apply to the analysis of genetic data for clinical diagnosis. Main technical content: This standard primarily consists of the following sections: scope, normative reference documents, terms and definitions, analysis process for low-depth whole-genome resequencing data, quality control requirements for sequencing data, standards for genotype inference techniques, and data specification requirements for variant interpretation results.