Liquid biopsy in cancer: current status, challenges and future prospectsLiwei Ma, Huiling Guo, Yunxiang Zhao et al.|Signal Transduction and Targeted Therapy|2024 Cancer has a high mortality rate across the globe, and tissue biopsy remains the gold standard for tumor diagnosis due to its high level of laboratory standardization, good consistency of results, relatively stable samples, and high accuracy of results. However, there are still many limitations and drawbacks in the application of tissue biopsy in tumor. The emergence of liquid biopsy provides new ideas for early diagnosis and prognosis of tumor. Compared with tissue biopsy, liquid biopsy has many advantages in the diagnosis and treatment of various types of cancer, including non-invasive, quickly and so on. Currently, the application of liquid biopsy in tumor detection has received widely attention. It is now undergoing rapid progress, and it holds significant potential for future applications. Around now, liquid biopsies encompass several components such as circulating tumor cells, circulating tumor DNA, exosomes, microRNA, circulating RNA, tumor platelets, and tumor endothelial cells. In addition, advances in the identification of liquid biopsy indicators have significantly enhanced the possibility of utilizing liquid biopsies in clinical settings. In this review, we will discuss the application, advantages and challenges of liquid biopsy in some common tumors from the perspective of diverse systems of tumors, and look forward to its future development prospects in the field of cancer diagnosis and treatment.
A compendium of genetic regulatory effects across pig tissuesJinyan Teng, Yahui Gao, Hongwei Yin et al.|Nature Genetics|2022 Abstract The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been established to develop a public resource of genetic regulatory variants in livestock, which is essential for linking genetic polymorphisms to variation in phenotypes, helping fundamental biological discovery and exploitation in animal breeding and human biomedicine. Here we show results from the pilot phase of PigGTEx by processing 5,457 RNA-sequencing and 1,602 whole-genome sequencing samples passing quality control from pigs. We build a pig genotype imputation panel and associate millions of genetic variants with five types of transcriptomic phenotypes in 34 tissues. We evaluate tissue specificity of regulatory effects and elucidate molecular mechanisms of their action using multi-omics data. Leveraging this resource, we decipher regulatory mechanisms underlying 207 pig complex phenotypes and demonstrate the similarity of pigs to humans in gene expression and the genetic regulation behind complex phenotypes, supporting the importance of pigs as a human biomedical model.
ECG signal classification based on deep CNN and BiLSTMJinyong Cheng, Qingxu Zou, Yunxiang Zhao|BMC Medical Informatics and Decision Making|2021 BACKGROUND: Currently, cardiovascular disease has become a major disease endangering human health, and the number of such patients is growing. Electrocardiogram (ECG) is an important basis for {medical doctors to diagnose the cardiovascular disease, which can truly reflect the health of the heart. In this context, the contradiction between the lack of medical resources and the surge in the number of patients has become increasingly prominent. The use of computer-aided diagnosis of cardiovascular disease has become particularly important, so the study of ECG automatic classification method has a strong practical significance. METHODS: This article proposes a new method for automatic identification and classification of ECG.We have developed a dense heart rhythm network that combines a 24-layer Deep Convolutional Neural Network (DCNN) and Bidirectional Long Short-Term Memory (BiLSTM) to deeply mine the hierarchical and time-sensitive features of ECG data. Three different sizes of convolution kernels (32, 64 and 128) are used to mine the detailed features of the ECG signal, and the original ECG is filtered using a combination of wavelet transform and median filtering to eliminate the influence of noise on the signal. A new loss function is proposed to control the fluctuation of loss during the training process, and convergence mapping of the tan function in the range of 0-1 is employed to better reflect the model training loss and correct the optimization direction in time. RESULTS: We applied the dataset provided by the 2017 PhysioNet/CINC challenge for verification. The experiment adopted ten-fold cross validation,and obtained an accuracy rate of 89.3[Formula: see text] and an F1 score of 0.891. CONCLUSIONS: This article proposes its own method in the aspects of ECG data preprocessing, feature extraction and loss function design. Compared with the existing methods, this method improves the accuracy of automatic ECG classification and is helpful for clinical diagnosis and self-monitoring of atrial fibrillation.
Weighted single-step GWAS identified candidate genes associated with semen traits in a Duroc boar populationBACKGROUND: In the pig production industry, artificial insemination (AI) plays an important role in enlarging the beneficial impact of elite boars. Understanding the genetic architecture and detecting genetic markers associated with semen traits can help in improving genetic selection for such traits and accelerate genetic progress. In this study, we utilized a weighted single-step genome-wide association study (wssGWAS) procedure to detect genetic regions and further candidate genes associated with semen traits in a Duroc boar population. Overall, the full pedigree consists of 5284 pigs (12 generations), of which 2693 boars have semen data (143,113 ejaculations) and 1733 pigs were genotyped with 50 K single nucleotide polymorphism (SNP) array. RESULTS: Results show that the most significant genetic regions (0.4 Mb windows) explained approximately 2%~ 6% of the total genetic variances for the studied traits. Totally, the identified significant windows (windows explaining more than 1% of total genetic variances) explained 28.29, 35.31, 41.98, and 20.60% of genetic variances (not phenotypic variance) for number of sperm cells, sperm motility, sperm progressive motility, and total morphological abnormalities, respectively. Several genes that have been previously reported to be associated with mammal spermiogenesis, testes functioning, and male fertility were detected and treated as candidate genes for the traits of interest: Number of sperm cells, TDRD5, QSOX1, BLK, TIMP3, THRA, CSF3, and ZPBP1; Sperm motility, PPP2R2B, NEK2, NDRG, ADAM7, SKP2, and RNASET2; Sperm progressive motility, SH2B1, BLK, LAMB1, VPS4A, SPAG9, LCN2, and DNM1; Total morphological abnormalities, GHR, SELENOP, SLC16A5, SLC9A3R1, and DNAI2. CONCLUSIONS: In conclusion, candidate genes associated with Duroc boars' semen traits, including the number of sperm cells, sperm motility, sperm progressive motility, and total morphological abnormalities, were identified using wssGWAS. KEGG and GO enrichment analysis indicate that the identified candidate genes were enriched in biological processes and functional terms may be involved into spermiogenesis, testes functioning, and male fertility.