T/SZGIA 2-2018 Active Group standards

T/SZGIA 2-2018 Guidelines for High-Throughput Sequencing Data Interpretation of Human Whole Genome Genetic Variations

T/SZGIA 2-2018 High-throughput sequencing data specification for interpretation of genetic variations across the human genome

Publish Date: 2018-01-30 Implement Date: 2018-01-31 For services related to genuine standard inquiry, procurement, translation, and other related services in China, please Contact Us
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Basic Information

Standard Code: T/SZGIA 2-2018
Standard Type: Group standards
Standard Status: Active
is_force_gb: no
CCS Name: Basic disciplines
ICS Name: Biology, botany, and zoology
Publish Date: 2018-01-30
Implement Date: 2018-01-31

Scope

Scope: This standard applies to the evaluation of the quality and accuracy of high-throughput sequencing data when interpreting genetic variants in individuals using human whole-genome high-throughput sequencing data. This standard is a general standard. For clinical diagnosis or scientific research, refined quality control parameters should be formulated based on the application requirements of this standard. Main technical content: This standard specifies the coverage of high-throughput sequencing data on the human genome, sequencing depth indicators, and the detection accuracy, sensitivity, and specificity indicators that should be achieved when using the standard sample NA12878.

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