Weintraub Grisha, Hadar Noam, Gudes Ehud, Dolev Shlomi, Birk Ohad S
Department of Computer Science, Faculty of Natural Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
Database (Oxford). 2024 Dec 27;2024. doi: 10.1093/database/baae130.
Originally developed to meet the challenges of genomic data deluge, GeniePool emerged as a pioneering platform, enabling efficient storage, accessibility, and analysis of vast genomic datasets, enabled due to its data lake architecture. Building on this foundation, GeniePool 2.0 advances genomic analysis through the integration of cutting-edge variant databases, such as CHM13-T2T, AlphaMissense, and gnomAD V4, coupled with the capability for variant co-occurrence queries. This evolution offers an unprecedented level of granularity and scope in genomic analyses, from enhancing our understanding of variant pathogenicity and phenotypic associations to facilitating research collaborations. The introduction of CHM13-T2T provides a more accurate reference for human genetic variation, AlphaMissense enriches the platform with protein-level impact predictions of missense mutations, and gnomAD V4 offers a comprehensive view of human genetic diversity. Additionally, the innovative feature for variant co-occurrence analysis is pivotal for exploring the combined effects of genetic variations, advancing our comprehension of compound heterozygosity, epistasis, and polygenic risk factors in disease pathogenesis. GeniePool 2.0 is a comprehensive and scalable platform, which aims to enhance genomic data analysis and contribute to genomic research, potentially supporting new discoveries and clinical innovations. Database URL: https://GeniePool.link.
GeniePool最初是为应对基因组数据泛滥的挑战而开发的，它作为一个开创性的平台出现，凭借其数据湖架构，能够高效存储、访问和分析大量基因组数据集。在此基础上，GeniePool 2.0通过整合前沿变异数据库（如CHM13-T2T、AlphaMissense和gnomAD V4）以及变异共现查询功能，推动了基因组分析的发展。这一演变在基因组分析中提供了前所未有的粒度和范围，从增强我们对变异致病性和表型关联的理解到促进研究合作。CHM13-T2T的引入为人类遗传变异提供了更准确的参考，AlphaMissense通过错义突变的蛋白质水平影响预测丰富了该平台，gnomAD V4提供了人类遗传多样性的全面视图。此外，变异共现分析的创新功能对于探索遗传变异的综合影响、推进我们对疾病发病机制中复合杂合性、上位性和多基因风险因素的理解至关重要。GeniePool 2.0是一个全面且可扩展的平台，旨在增强基因组数据分析并为基因组研究做出贡献，有可能支持新的发现和临床创新。数据库网址：https://GeniePool.link 。
