International Standards for Genomes, Transcriptomes, and Metagenomes. Review uri icon

Overview

abstract

  • Challenges and biases in preparing, characterizing, and sequencing DNA and RNA can have significant impacts on research in genomics across all kingdoms of life, including experiments in single-cells, RNA profiling, and metagenomics (across multiple genomes). Technical artifacts and contamination can arise at each point of sample manipulation, extraction, sequencing, and analysis. Thus, the measurement and benchmarking of these potential sources of error are of paramount importance as next-generation sequencing (NGS) projects become more global and ubiquitous. Fortunately, a variety of methods, standards, and technologies have recently emerged that improve measurements in genomics and sequencing, from the initial input material to the computational pipelines that process and annotate the data. Here we review current standards and their applications in genomics, including whole genomes, transcriptomes, mixed genomic samples (metagenomes), and the modified bases within each (epigenomes and epitranscriptomes). These standards, tools, and metrics are critical for quantifying the accuracy of NGS methods, which will be essential for robust approaches in clinical genomics and precision medicine.

publication date

  • March 17, 2017

Research

keywords

  • Gene Expression Profiling

Identity

PubMed Central ID

  • PMC5359768

Scopus Document Identifier

  • 85018313637

Digital Object Identifier (DOI)

  • 10.1093/nar/gkw1242

PubMed ID

  • 28337071

Additional Document Info

volume

  • 28

issue

  • 1