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Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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Purifying the Impure: Sequencing Metagenomes and Metatranscriptomes from Complex Animal-associated Samples

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Published on: December 22, 2014

International Standards for Genomes, Transcriptomes, and Metagenomes.

Christopher E Mason¹, Ebrahim Afshinnekoo², Scott Tighe³

¹Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York 10065, USA;; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York 10065, USA;; Feil Family Brain & Mind Research Institute, Weill Cornell Medicine, New York, New York 10065, USA.

Journal of Biomolecular Techniques : JBT

|March 25, 2017

Summary

Biases in DNA/RNA sequencing impact genomics research. New standards and technologies are emerging to improve measurement accuracy for genomics and precision medicine applications.

Keywords:

epigenomics epitranscriptomics genomics metagenomics transcriptomics

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Area of Science:

Genomics and Molecular Biology
Bioinformatics and Computational Biology

Background:

DNA and RNA preparation, characterization, and sequencing face challenges and biases.
Technical artifacts and contamination can occur throughout the genomics workflow, impacting research outcomes.
The increasing ubiquity of next-generation sequencing (NGS) necessitates robust error measurement and benchmarking.

Purpose of the Study:

To review current standards, tools, and metrics for improving measurements in genomics.
To highlight advancements in addressing challenges across various genomic applications.
To emphasize the importance of accurate NGS for clinical genomics and precision medicine.

Main Methods:

Review of emerging methods, standards, and technologies in genomics and sequencing.
Application of standards to diverse genomic contexts including whole genomes, transcriptomes, and metagenomes.
Evaluation of tools and metrics for quantifying accuracy in NGS data.

Main Results:

Emerging standards and technologies enhance genomic measurement accuracy.
Improved methods address challenges in single-cell, RNA profiling, and metagenomic studies.
Development of tools for epigenome and epitranscriptome analysis.

Conclusions:

Current standards, tools, and metrics are critical for quantifying NGS accuracy.
Accurate NGS methods are essential for reliable clinical genomics and precision medicine.
Advancements in standards mitigate biases and artifacts in genomic research.