ISO/IEC 23092-4:2020 PDF

Name: ISO/IEC 23092-4:2020 — Information technology — Genomic information representation — Part 4: Reference software
SKU: ISO/IEC 23092-4:2020
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Information technology — Genomic information representation — Part 4: Reference software

Название (английский):

ISO/IEC 23092-4:2020

Information technology — Genomic information representation — Part 4: Reference software

Статус документа:: Действующий
Формат:: Электронный (PDF)
Количество страниц:: 3
Дата публикации:: 29 октября 2020 г.
Издание:: ISO/IEC IS 23092 edition 1 version 1
ICS:: 35.040.99

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Описание (английский):

This document specifies genomic information representation reference software, referred to as the genomic model (GM). This decoding software is provided to assess conformance to the requirements of ISO/IEC 23092-1 and ISO/IEC 23092-2.

Abstract

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Стандарты, упомянутые в описании

Overview

ISO/IEC 23092-4:2020 is an international standard published by ISO and IEC titled Information technology - Genomic information representation - Part 4: Reference software. This standard specifies the genomic information representation reference software, known as the genomic model (GM), which serves as decoding software to assess conformance with the earlier parts of the ISO/IEC 23092 series, specifically parts 1 and 2.

The purpose of this standard is to provide a normative, reference implementation that ensures interoperability and verification of genomic data coding methods. It supports the growing need for standardized, efficient, and interoperable genomic information processing in the context of high-throughput sequencing (HTS) technologies and personalized genomic medicine.

Key Topics

Genomic Model (GM) Software: The core of ISO/IEC 23092-4 is the genomic model, which is decoding software compliant with ISO/IEC 23092-1 and ISO/IEC 23092-2. It decodes bitstreams into genomic data representations consistent with the standard.

Conformance Assessment: The GM provides a tool for validating compliance of genomic data encoding and decoding implementations, assuring that encoded bitstreams processed by conformant decoders yield identical results.

Data Structures: The standard introduces fundamental genomic data structures such as genomic records, access units, and data clusters that represent sequencing reads, alignments, and associated metadata efficiently.

Reference Software Modules: ISO/IEC 23092-4 provides modular source code, available under a BSD License, facilitating reuse and integration in genomic data processing tools. The software does not prioritize computational optimization but acts as a definitive reference implementation.

Copyright and Licensing: The software modules come with a copyright disclaimer under BSD License terms, encouraging redistribution and use under specific conditions while disclaiming warranties.

Supporting Documents: This part of the series complements ISO/IEC 23092-1 (transport and storage), ISO/IEC 23092-2 (coding of genomic information), and ISO/IEC 23092-3 (metadata and APIs).

Applications

Genomic Data Exchange: Enables standardized exchange of sequencing data and aligned DNA sequences across diverse platforms and software systems, bridging compatibility gaps in genomic information workflows.

Bioinformatics Tools Development: Provides a foundation reference implementation supporting developers in building applications and pipelines that encode or decode genomic information compliant with ISO standards.

Personalized Medicine: Facilitates accurate, reliable transmission and storage of genomic data critical to patient-specific diagnostics and treatment decisions in clinical environments.

Genomic Data Compression: Supports optimized, interoperable coding formats for large-scale genomic data compression, improving storage efficiency and transmission speed.

Research and Clinical Genomics: Ensures consistent handling of genomic datasets, including raw sequencing reads, alignment data, and associated metadata, enhancing reproducibility in research and clinical diagnostics.

Related Standards

ISO/IEC 23092-1: Defines transport and storage methods for genomic information, including container formats optimized for genomic data.

ISO/IEC 23092-2: Specifies coding techniques for genomic sequences and alignment data, enabling efficient compression.

ISO/IEC 23092-3: Covers genomic information metadata frameworks and application programming interfaces (APIs) to interact with genomic datasets programmatically.

The ISO/IEC 23092 series as a whole addresses modular and flexible approaches for representing genomic data, focusing on scalability, interoperability, and secure data handling.

For more information and access to the reference software, visit the official ISO page: https://standards.iso.org/iso-iec/23092/-4/ed-1/en/. This resource offers full access to the genomic model implementation referenced by this standard.

ISO/IEC 23092-4:2020 PDF

Abstract

Похожие стандарты

Overview

Key Topics

Applications

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