DescriptionFacial morphology, a complex trait influenced by genetics, holds great significance in evolutionary research. However, due to limited fossil evidence, the facial characteristics of Neanderthals and Denisovans have remained largely unknown. In this study, we conducted a large-scale multi-ethnic meta-analysis of Genome-Wide Association Study (GWAS), including 9,764 East Asians and 10,115 Europeans, quantitatively assessing 78 facial traits using 3D facial images. We identified 71 genomic loci associated with facial features, including 21 novel loci.
OEP005438
Description1. CircRNA sequencing was performed to analyse 7 primary pancreatic ductal adenocarcinoma(PDAC) tissues (including 4 PDAC tissues with a lower SUVmax and 3 PDAC tissues with a higher SUVmax). 2. CircRNA sequencing was performed to analyse in 8 primary PDAC tissues (including 4 tumour-node-metastasis (TNM) stage I PDAC tissues and 4 TNM stage VI PDAC tissues). 3. RNA-seq to detect differentially expressed genes (DEGs) between Capan-1 cells with circRREB1 knockdown (sh-circRREB1) and control cells (sh-NC).
OEP005444
DescriptionWhole-exome sequencing (WES) plays a crucial role in diagnosing genetic diseases by identifying germline variants. However, reproducibility issues limit its clinical utility. We conducted a large-scale proficiency test across 89 clinical and commercial labs in China, employing the well-characterized Quartet DNA reference materials, to evaluate the impact of experimental and bioinformatic factors on the performance of small variant detection. We observed significant variability in sequencing data quality and variant calling performance, with higher raw read quality and lower contamination levels improved variant detection. Our findings emphasized the collective influence of multiple factors on variant detection, with capture efficiency metrics, such as fold-80 penalty, on-target rate, and target region coverage, instead of base-by-base quality metrics on raw sequences, emerging as the most critical. Our study not only revealed the nationwide performance of WES in China, but also provided actionable best practices for optimizing the entire WES process, from data generation to analysis, thereby enhancing variant detection quality and reliability.
OEP005441
DescriptionCircRNA sequencing was performed to analyse 7 primary PDAC tissues (including 4 PDAC tissues with a lower SUVmax and 3 PDAC tissues with a higher SUVmax)
OEP005442
DescriptionSamples in the NSPT cohort included 3,557 Chinese individuals recruited as volunteers from three regional districts in China: Zhengzhou, Taizhou, and Nanning. For each individual, we conducted comprehensive omics profiling of 12,882 plasma proteins and 351 serum metabolites in blood tissue.
OEP005440
DescriptionReactive iron (FeR) has been suggested to serve as a semi-persistent sink of organic carbon (OC) in surface marine sediments, where approximately 10-20% of total OC (TOC) is associated with FeR (FeR-OC). However, the persistence of FeR-OC on geological timescales remains poorly constrained. Here, we retrieved FeR-OC records in two long sediment cores of the northern South China Sea spanning almost the past 100 kyrs. Most prominently, the downcore marine-sourced FeR-OC contributes a relative stable proportion of 13.3±3.2% to TOC. However, distinctly lower values of less than 5% of TOC, accompanied by notable 13C depletion of FeR-OC are observed in the sulfate-methane transition zone (SMTZ), where active sulfate reduction and potential iron reduction are indicated by microbial composition and geochemical modelling. FeR-OC is suggested to be remobilized by abiotic and biotic reductive dissolution of FeR (and might be substituted with freshly formed 13C-depleted OC). The global budget of FeR-OC in marine sediments influenced by microbial processes could be as large as 312±126×1017 g, which is 21-50 times the size of the atmospheric carbon pool. Thus, sedimentary FeR-OC as an exchangeable reservoir of labile OC may support deep life and play a role in regulating Earth’s carbon cycle over geological timescales.
OEP004265
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OEP005436
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OEP005418
DescriptionSampling stream biofilms for bacterial and fungal biodiversity and underlying driving mechanisms research on the Tibetan Plateau in 2018.
OEP004862
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OEP005433