The consumer genomics industry is steadily growing and delivering genetic information to over 10 million individuals. Yet, the implications of using data from different services remain unclear. We investigated the genotyped sites, concordance, and genetic risk estimation using data from three consumer services—two single nucleotide polymorphism (SNP)‐array based and one sequencing based. In an N‐of‐one setting, we found the three services genotyped predominantly distinct sets of sites. While there was a high concordance between overlapping sites of the two SNP‐array services (99.6%), there was a lower concordance between these services and a low‐pass whole‐genome service (73.0%). The discrepancy between the three sets of data resulted in different APOE genotypes and genetic risk scores of Alzheimer's disease. Our results demonstrate genotype results across consumer genomics platforms may lead to different genetic risk estimates, highlighting the need for careful quality control and interpretation.

中文翻译：

---

消费者基因检测数据的基因型一致性和多基因风险评分估计

消费者基因组学行业正在稳步增长，并向超过 1000 万人提供遗传信息。然而，使用来自不同服务的数据的影响仍不清楚。我们使用来自三种消费者服务的数据——两种基于单核苷酸多态性 (SNP) 阵列和一种基于测序的数据，研究了基因分型位点、一致性和遗传风险估计。在 N-of-one 设置中，我们发现三个服务的基因分型主要是不同的站点集。虽然两个 SNP 阵列服务的重叠位点之间有很高的一致性 (99.6%)，但这些服务与低通全基因组服务之间的一致性较低 (73.0%)。三组数据之间的差异导致了不同的APOE基因型和阿尔茨海默病的遗传风险评分。