PLoV:导致流产的基因变异的综合数据库。

IF 3.4 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY
Evgeniia M Maksiutenko, Igor V Bezdvornykh, Yury A Barbitoff, Yulia A Nasykhova, Andrey S Glotov
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引用次数: 0

摘要

流产是影响许多夫妇的重要生殖健康问题。遗传因素在自然流产和复发性流产中都起着重要作用,基因组变异的影响被认为是整倍体胎儿流产的主要原因之一。在这项工作中,我们扩展了之前对妊娠丢失的遗传景观的分析,并开发了一个妊娠丢失遗传变异(PLoV)数据库,以汇总与妊娠丢失有关的突变信息。该数据库包含在47项研究中421例中观察到的534种遗传变异的信息,包括仅针对胎儿的研究、仅针对父母的研究和基于三人的研究。对于每个病例,数据库包括表型的详细描述,包括超声数据(如果在原始文章中提供)。这些基因变异分散在人类基因组的所有染色体上,总共影响292个独特的基因。我们在https://plovdb.ott.ru/上提供了对PLoV数据库的公共访问。数据库地址:https://plovdb.ott.ru/。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
PLoV: a comprehensive database of genetic variants leading to pregnancy loss.

Pregnancy loss is an important reproductive health problem that affects many couples. Genetic factors play an important role in both spontaneous miscarriage and recurrent pregnancy loss, and the effect of genomic variants is recognized as one of the major causes of pregnancy loss in euploid foetuses. In this work, we extend our previous analysis of the genetic landscape of pregnancy loss and develop a Pregnancy Loss genetic Variant (PLoV) database to aggregate information about mutations that have been implicated in pregnancy loss. The database contains information about 534 genetic variants that have been observed in 421 cases across 47 studies, including foetus-only, parent-only, and trio-based studies. For each case, the database includes a detailed description of the phenotype, including ultrasound data (if provided in the original article). The genetic variants are scattered across all chromosomes in the human genome and affect a total of 292 unique genes. We provide a public access to the PLoV database at https://plovdb.ott.ru/. Database URL: https://plovdb.ott.ru/.

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来源期刊
Database: The Journal of Biological Databases and Curation
Database: The Journal of Biological Databases and Curation MATHEMATICAL & COMPUTATIONAL BIOLOGY-
CiteScore
9.00
自引率
3.40%
发文量
100
审稿时长
>12 weeks
期刊介绍: Huge volumes of primary data are archived in numerous open-access databases, and with new generation technologies becoming more common in laboratories, large datasets will become even more prevalent. The archiving, curation, analysis and interpretation of all of these data are a challenge. Database development and biocuration are at the forefront of the endeavor to make sense of this mounting deluge of data. Database: The Journal of Biological Databases and Curation provides an open access platform for the presentation of novel ideas in database research and biocuration, and aims to help strengthen the bridge between database developers, curators, and users.
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