T/LTIA 21-2023 Population allele frequency database construction requirements
T/LTIA 21-2023 Population allele frequency database construction requirements
Basic Information
Scope
Scope: This document provides technical guidelines for the construction of a population allele frequency database. This document specifies the data collection and dataset requirements for the construction of a population allele frequency database. This document is applicable to genetic analysis interpretations using population allele frequencies. Main technical content: In terms of terminology and definitions, the document defines alleles, allele frequencies, minimum allele frequencies, genotypes, genotype frequencies, population variation spectra, population structure, single nucleotide polymorphisms (SNPs), insertion/deletion polymorphisms (Indels), structural variants, copy number variants (CNVs), gene annotation, omics, databases, data storage, quality control, principal component analysis (PCA), neighbor-joining method, K-nearest neighbor imputation, meta-imputation, and missing forest imputation. In the data collection requirements section, the standard proposes specific requirements or recommendations for biological samples, data collection, omics digitization, individual analysis, population analysis, and data cataloging. In the data quality requirements section, the standard sets forth specific requirements or recommendations for quality control of frequency data, data cleaning, and structured presentation of frequency data. In the data management requirements section, the standard outlines specific requirements or recommendations for permission settings, data addition, data deletion, data modification, and data retrieval. In the data visualization requirements section, the standard specifies requirements or recommendations for population variation spectra and population structure. In the data security requirements section, the standard proposes specific requirements or recommendations for storage security and network security. In the data application requirements section, the standard presents specific requirements or recommendat