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Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications.

ABSTRACT: Osteoporosis is a common skeletal disease, affecting ~200 million people around the world. As a complex disease, osteoporosis is influenced by many factors, including diet (e.g. calcium and protein intake), physical activity, endocrine status, coexisting diseases and genetic factors. In this review, we first summarize the discovery from genome-wide association studies (GWASs) in the bone field in the last 12 years. To date, GWASs and meta-analyses have discovered hundreds of loci that are associated with bone mineral density (BMD), osteoporosis, and osteoporotic fractures. However, the GWAS approach has sometimes been criticized because of the small effect size of the discovered variants and the mystery of missing heritability, these two questions could be partially explained by the newly raised conceptual models, such as omnigenic model and natural selection. Finally, we introduce the clinical use of GWAS findings in the bone field, such as the identification of causal clinical risk factors, the development of drug targets and disease prediction. Despite the fruitful GWAS discoveries in the bone field, most of these GWAS participants were of European descent, and more genetic studies should be carried out in other ethnic populations to benefit disease prediction in the corresponding population.

SUBMITTER: Zhu X

PROVIDER: S-EPMC8085014 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundThe limitations of traditional computer-aided detection (CAD) systems for mammography, the extreme importance of early detection of breast cancer and the high impact of the false diagnosis of patients drive researchers to investigate deep learning (DL) methods for mammograms (MGs). Recent breakthroughs in DL, in particular, convolutional neural networks (CNNs) have achieved remarkable advances in the medical fields. Specifically, CNNs are used in mammography for lesion localization and detection, risk assessment, image retrieval, and classification tasks. CNNs also help radiologists providing more accurate diagnosis by delivering precise quantitative analysis of suspicious lesions.ResultsIn this survey, we conducted a detailed review of the strengths, limitations, and performance of the most recent CNNs applications in analyzing MG images. It summarizes 83 research studies for applying CNNs on various tasks in mammography. It focuses on finding the best practices used in these research studies to improve the diagnosis accuracy. This survey also provides a deep insight into the architecture of CNNs used for various tasks. Furthermore, it describes the most common publicly available MG repositories and highlights their main features and strengths.ConclusionsThe mammography research community can utilize this survey as a basis for their current and future studies. The given comparison among common publicly available MG repositories guides the community to select the most appropriate database for their application(s). Moreover, this survey lists the best practices that improve the performance of CNNs including the pre-processing of images and the use of multi-view images. In addition, other listed techniques like transfer learning (TL), data augmentation, batch normalization, and dropout are appealing solutions to reduce overfitting and increase the generalization of the CNN models. Finally, this survey identifies the research challenges and directions that require further investigations by the community.

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Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications.

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