The evolution of dbSNP: 25 years of impact in genomic research

IF 16.6 2区生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Nucleic Acids Research Pub Date : 2024-11-12 DOI:10.1093/nar/gkae977

Lon Phan, Hua Zhang, Qiang Wang, Ricardo Villamarin, Tim Hefferon, Aravinthan Ramanathan, Brandi Kattman

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引用次数: 0

Abstract

The Single Nucleotide Polymorphism Database (dbSNP), established in 1998 by the National Center for Biotechnology Information (NCBI), has been a critical resource in genomics for cataloging small genetic variations. Originally focused on single nucleotide polymorphisms (SNPs), dbSNP has since expanded to include a variety of genetic variants, playing a key role in genome-wide association studies (GWAS), population genetics, pharmacogenomics, and cancer research. Over 25 years, dbSNP has grown to include more than 4.4 billion submitted SNPs and 1.1 billion unique reference SNPs, providing essential data for identifying disease-related genetic variants and studying human diversity. Integrating large-scale projects like 1000 Genomes, gnomAD, TOPMed, and ALFA has expanded dbSNP’s catalog of human genetic variation, increasing its usefulness for research and clinical applications. Keeping up with advancements such as next-generation sequencing and cloud-based infrastructure, dbSNP remains a cornerstone of genetic research supporting continued discoveries in precision medicine and population genomics. DATABASE URL: https://www.ncbi.nlm.nih.gov/snp.

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dbSNP 的演变：25 年来对基因组研究的影响

单核苷酸多态性数据库（dbSNP）由美国国家生物技术信息中心（NCBI）于 1998 年建立，一直是基因组学中对微小遗传变异进行编目的重要资源。dbSNP 最初侧重于单核苷酸多态性 (SNP)，后来扩展到包括各种遗传变异，在全基因组关联研究 (GWAS)、群体遗传学、药物基因组学和癌症研究中发挥了关键作用。25 年来，dbSNP 已收录了超过 44 亿个提交的 SNP 和 11 亿个独特的参考 SNP，为确定与疾病相关的遗传变异和研究人类多样性提供了重要数据。整合 1000 Genomes、gnomAD、TOPMed 和 ALFA 等大型项目扩大了 dbSNP 的人类基因变异目录，提高了其在研究和临床应用中的实用性。随着下一代测序和基于云的基础设施等技术的不断进步，dbSNP 仍是基因研究的基石，为精准医学和群体基因组学的不断发现提供支持。数据库网址：https://www.ncbi.nlm.nih.gov/snp。

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

Nucleic Acids Research 生物-生化与分子生物学

CiteScore

27.10

自引率

4.70%

发文量

1057

审稿时长

2 months

期刊介绍： Nucleic Acids Research (NAR) is a scientific journal that publishes research on various aspects of nucleic acids and proteins involved in nucleic acid metabolism and interactions. It covers areas such as chemistry and synthetic biology, computational biology, gene regulation, chromatin and epigenetics, genome integrity, repair and replication, genomics, molecular biology, nucleic acid enzymes, RNA, and structural biology. The journal also includes a Survey and Summary section for brief reviews. Additionally, each year, the first issue is dedicated to biological databases, and an issue in July focuses on web-based software resources for the biological community. Nucleic Acids Research is indexed by several services including Abstracts on Hygiene and Communicable Diseases, Animal Breeding Abstracts, Agricultural Engineering Abstracts, Agbiotech News and Information, BIOSIS Previews, CAB Abstracts, and EMBASE.