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Ultralow Input Genome Sequencing Library Preparation from a Single Tardigrade Specimen

Ultralow Input Genome Sequencing Library Preparation from a Single Tardigrade Specimen

Published on: July 15, 2018

A reference-quality, fully annotated genome from a Puerto Rican individual.

Aleksey V Zimin^1,2, Alaina Shumate^1,2, Ida Shinder^2,3

¹Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218, USA.

|December 13, 2021

Summary

A new Puerto Rican genome (PR1) offers a more complete reference than previous versions. This African-descent genome improves gene annotation and aids future human genome research.

Keywords:

DNA sequencing annotation genome assembly reference genome variant calling

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Area of Science:

Genomics
Human Genetics
Bioinformatics

Background:

The human genome reference GRCh38 was the sole annotated version until 2019.
Limited diversity in human genome references hinders comprehensive genetic studies.

Purpose of the Study:

To assemble and annotate a new, highly contiguous human reference genome from a Puerto Rican individual (PR1).
To establish the first reference genome from an individual of African descent, enhancing genomic diversity.

Main Methods:

Utilized advanced sequencing and assembly technologies.
Employed the CHM13 human genome as a guide for assembly.
Performed comprehensive gene annotation on the assembled PR1 genome.

Main Results:

PR1 is more complete and contiguous than GRCh38 and Ash1.
Annotation identified 37,755 genes (19,999 protein-coding) in PR1.
Discovered gene copy number variations, including 12 additional copies in PR1 compared to CHM13, and identified genes missing or partially mapped in PR1 relative to CHM13.

Conclusions:

The PR1 genome represents a significant advancement in human genome reference diversity.
PR1 provides a more accurate and comprehensive genomic resource, particularly for populations of African descent.
This new reference genome will improve genetic research and understanding of human variation.