AVITI as an alternative to Illumina for low-cost genome-wide genotyping.

IF 2.3 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Genome Pub Date : 2025-01-01 DOI:10.1139/gen-2024-0068
Maxime de Ronne, Brian Boyle, Davoud Torkamaneh
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引用次数: 0

Abstract

Advancements in sequencing technologies have dramatically transformed genomics research by enabling the analysis of genetic information with unprecedented scale and efficiency. Next-generation sequencing, renowned for its high-throughput capabilities, has significantly reduced costs and expanded the scope of sequencing applications. Among these, sequencing by synthesis on Illumina systems is predominant, favored for its accuracy and cost-effectiveness. However, emerging technologies like Element Biosciences' sequencing by Avidity (AVITI) are beginning to challenge this dominance. In this study, we sequenced and genotyped a library of 40 Cannabis samples using both the AVITI and Illumina NovaSeq systems. After filtering out low-quality variants, both technologies showed an 81.2% overlap with 98.9% concordance in genotype calls. AVITI stands out for its flexibility and reduced per-base costs, presenting a viable option particularly for mid-sized laboratories. As the scientific community continues to seek ways to lower genotyping expenses, the combination of the AVITI system with NanoGBS library preparation offers a cost-effective solution adaptable to a wide range of project sizes.

AVITI作为Illumina低成本全基因组基因分型的替代品。
测序技术的进步极大地改变了基因组学研究,使遗传信息分析具有前所未有的规模和效率。下一代测序(NGS)以其高通量能力而闻名,大大降低了成本并扩大了测序应用的范围。其中,合成测序(SBS)在Illumina系统上占主导地位,因其准确性和成本效益而受到青睐。然而,像Element Biosciences公司的AVITI测序技术这样的新兴技术正开始挑战这一主导地位。在这项研究中,我们使用AVITI和Illumina NovaSeq系统对40个大麻样本进行测序和基因分型,观察到81.2%的基因型重叠和98.9%的基因型一致性。AVITI以其灵活性和降低的每个碱基成本而脱颖而出,为中型实验室提供了一个可行的选择。随着科学界不断寻求降低基因分型费用的方法,AVITI系统与NanoGBS文库制备的结合提供了一种具有成本效益的解决方案,适用于各种项目规模。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Genome
Genome 生物-生物工程与应用微生物
CiteScore
5.30
自引率
3.20%
发文量
42
审稿时长
6-12 weeks
期刊介绍: Genome is a monthly journal, established in 1959, that publishes original research articles, reviews, mini-reviews, current opinions, and commentaries. Areas of interest include general genetics and genomics, cytogenetics, molecular and evolutionary genetics, developmental genetics, population genetics, phylogenomics, molecular identification, as well as emerging areas such as ecological, comparative, and functional genomics.
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