Disease gene identification is a critical step towards uncovering the molecular mechanisms of diseases and systematically investigating complex disease phenotypes. Despite considerable efforts to develop powerful computing methods, candidate gene ide...
Deep neural networks (DNNs) have achieved state-of-the-art performance in identifying gene regulatory sequences, but they have provided limited insight into the biology of regulatory elements due to the difficulty of interpreting the complex features...
International journal of molecular sciences
Oct 1, 2020
Recent studies uncover that subcellular location of long non-coding RNAs (lncRNAs) can provide significant information on its function. Due to the lack of experimental data, the number of lncRNAs is very limited, experimentally verified subcellular l...
Radiographics : a review publication of the Radiological Society of North America, Inc
Sep 25, 2020
Machine learning (ML) algorithms have demonstrated high diagnostic accuracy in identifying and categorizing disease on radiologic images. Despite the results of initial research studies that report ML algorithm diagnostic accuracy similar to or excee...
Studies in history and philosophy of biological and biomedical sciences
Sep 10, 2020
Ethnobotanical research provides ample justification for comparing diverse biological nomenclatures and exploring ways that retain alternative naming practices. However, how (and whether) comparison of nomenclatures is possible remains a subject of d...
SNOMED CT is a comprehensive and evolving clinical reference terminology that has been widely adopted as a common vocabulary to promote interoperability between Electronic Health Records. Owing to its importance in healthcare, quality assurance becom...
Biochimica et biophysica acta. Molecular basis of disease
Apr 28, 2020
Lung cancer is one of the most common cancer types worldwide and causes more than one million deaths annually. Lung adenocarcinoma (AC) and lung squamous cell cancer (SCC) are two major lung cancer subtypes and have different characteristics in sever...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Mar 4, 2020
The FHIR specification provides a mechanism to access clinical terminologies using a standard API, and many existing terminologies, such as SNOMED CT, are well supported. However, in areas such as genomics, terminologies from other domains are starti...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Mar 4, 2020
The integration of genetic information in current clinical routine has raised a need for tools to exploit family genetic knowledge. On the clinical side, an application for managing and visualizing pedigree diagrams could provide genetics specialists...
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