PhenomeCentral: 7 years of rare disease matchmaking
PhenomeCentral: 7 years of rare disease matchmaking
复制标题
DOI：
10.1002/humu.24348
复制
发表时间：
2022-02-22
期刊：
影响因子：
3.9
通讯作者：
Brudno, Michael
中科院分区：
文献类型：
--
作者：
Osmond, Matthew;Hartley, Taila;Brudno, Michael
验证罕见病（RD）患者遗传原因的一个主要挑战是难以识别在同一候选基因中具有重叠表型和变体的其他RD患者。这一过程被称为匹配，需要强大的数据共享解决方案才能有效。2014年，我们推出了PhenomeCentral，这是一个研发数据库，能够收集计算机可读的基因型和表型数据，用于研发配对。在过去的7年中，PhenomeCentral的功能已经扩展，其数据集不断增长。目前PhenomeCentral上有1615名注册用户，已贡献了超过12，000例患者病例。这些病例中的大多数包含详细的表型术语，其中很大一部分还提供基因组序列数据或其他形式的临床信息。PhenomeCentral内的配对，以及与Matchmaker Exchange中其他数据库的连接，总共产生了60，000多个匹配，这促进了多个基因的发现。深度表型和基因型数据的收集也使PhenomeCentral能够很好地支持利用基因组测序数据的下一代配对计划，确保PhenomeCentral在未来几年仍然是解决未诊断RD病例的有用工具。
A major challenge in validating genetic causes for patients with rare diseases (RDs) is the difficulty in identifying other RD patients with overlapping phenotypes and variants in the same candidate gene. This process, known as matchmaking, requires robust data sharing solutions to be effective. In 2014 we launched PhenomeCentral, a RD data repository capable of collecting computer-readable genotypic and phenotypic data for the purposes of RD matchmaking. Over the past 7 years PhenomeCentral's features have been expanded and its data set has consistently grown. There are currently 1615 users registered on PhenomeCentral, which have contributed over 12,000 patient cases. Most of these cases contain detailed phenotypic terms, with a significant portion also providing genomic sequence data or other forms of clinical information. Matchmaking within PhenomeCentral, and with connections to other data repositories in the Matchmaker Exchange, have collectively resulted in over 60,000 matches, which have facilitated multiple gene discoveries. The collection of deep phenotypic and genotypic data has also positioned PhenomeCentral well to support next generation of matchmaking initiatives that utilize genome sequencing data, ensuring that PhenomeCentral will remain a useful tool in solving undiagnosed RD cases in the years to come.