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Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

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Related Experiment Video

Updated: May 12, 2026

Tissue Collection of Bats for -Omics Analyses and Primary Cell Culture

Tissue Collection of Bats for -Omics Analyses and Primary Cell Culture

Published on: October 23, 2019

Best-practice guidance for Earth BioGenome Project sample collection and processing: progress and challenges in

Mara K N Lawniczak¹, Kevin M Kocot², Jonas J Astrin³

¹Tree of Life, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.

|May 29, 2025

Summary

The Earth BioGenome Project aims to create high-quality reference genomes for all life. This guide provides essential standards for sample collection and processing in its initial phase, addressing future challenges.

Keywords:

Hi-C Reference genomes biodiversity long read sequencing sample collection

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Area of Science:

Genomics
Biodiversity research
Bioinformatics

Background:

The Earth BioGenome Project (EBP) aims to generate high-quality reference genomes for all eukaryotic life.
The project is currently in its initial phase, focusing on family-level representatives.

Purpose of the Study:

To outline recommended standards and considerations for sample acquisition and processing for biodiverse reference genome creation.
To identify challenges and areas requiring further development for future EBP phases.

Main Methods:

Review and synthesis of current best practices in sample acquisition and processing.
Identification of key considerations for large-scale, high-quality genome generation.
Discussion of challenges in sample collection and processing for future project phases.

Main Results:

Established recommended standards for sample acquisition and processing for the EBP.
Highlighted critical considerations for generating high-quality reference genomes at scale.
Identified areas for future development in sample collection and processing.

Conclusions:

Adherence to standardized protocols is crucial for the success of the Earth BioGenome Project.
Ongoing development in sample collection and processing is necessary to meet the project's long-term goals.
The EBP's phased approach allows for adaptation and improvement over time.