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BS ISO 20397-2:2021

$142.49

Biotechnology. Massively parallel sequencing – Quality evaluation of sequencing data

Published By Publication Date Number of Pages
BSI 2021 30
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This document specifies general requirements and recommendations for quality assessments and control of massively parallel sequencing (MPS) data. It covers post raw data generation procedures, sequencing alignments, and variant calling.

This document also gives general guidelines for validation and documentation of MPS data.

This document does not apply to any processes related to de novo assembly.

PDF Catalog

PDF Pages PDF Title
2 National foreword
6 Foreword
7 Introduction
9 1 Scope
2 Normative references
3 Terms and definitions
14 4 Raw data
4.1 General
4.2 Raw data file
4.3 Quality assessment of raw data
4.3.1 General
15 4.3.2 Basic statistics
4.3.3 Quality metrics
16 4.4 Raw data pre-processing
5 Sequence alignment and mapping
5.1 General
17 5.2 Alignment and mapping file format
5.3 Quality control of sequencing alignment and mapping
5.3.1 Basic alignment statistics
18 5.3.2 Quality indicators
19 5.3.3 Methods for alignment and mapping quality assessment
5.4 Alignment post-processing
6 Variant calling
6.1 General
6.2 Data file for variant calling
20 6.3 Quality metrics in the variant calling
6.4 Processing of false positive variants
6.5 Sequence annotation
7 Validation
7.1 General
21 7.2 Validation of quality metrics
22 8 Documentation
23 Annex A (informative) Quality metrics for specific example MPS platforms
24 Annex B (informative) Coverage and read recommendations by applications
26 Annex C (informative) Software for sequence alignment and mapping
27 Bibliography
BS ISO 20397-2:2021
$142.49