ArticleHuman genomics2026
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Article in Human genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
Abstract
backgroundCarrier screening serves as an effective measure for reproductive planning. Given ancestry/regional variations in genetic spectra, this study aimed to comprehensively identify high carrier frequency genes/variants in the Chinese population, thereby providing evidence for developing tailored expanded carrier screening (ECS) strategies. In this retrospective study, 5,018 healthy participants from Eastern China who visited Peking Union Medical College Hospital between January 2013 and December 2023 underwent ECS. Whole exome sequencing (WES) was employed to detect over 3,000 monogenic disorders with autosomal recessive (AR), X-linked (XL), or X-linked recessive (XLR) inheritance patterns, followed by comprehensive analysis of the WES data.
resultsThe cumulative carrier rate in the study population was 84% (4,213/5,018), with an average of 1.84 pathogenic/likely pathogenic variants per participant. The study identified 204 at-risk couples, representing an overall risk rate of 8.54%. Additionally, 62 high-frequency genes (carrier frequency ≥ 1/200) were detected, including some ACMG-recommended genes previously excluded from Chinese ECS panels due to unclear carrier frequencies. Further analysis proposed an optimized Chinese ECS strategy incorporating 200–300 key high-frequency pathogenic genes for panel size design and utilizing hybridization capture sequencing to maximize panel efficiency.
conclusionThis study revealed distinctive genetic characteristics of the Chinese population and provides foundation for developing population-specific ECS strategies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.