Annals of the American Thoracic Society
Jan 1, 2022
Elexacaftor, tezacaftor, and ivacaftor (ETI) in triple combination improves pulmonary health for people with cystic fibrosis (PwCF). However, its impact on objective measures of sinus disease and health utility is unestablished. To evaluate the imp...
Next generation sequencing generates copious amounts of genomics data, causing manual interpretation to be laborious and non-scalable while remaining subjective (even for highly trained specialists). We evaluated the performance of the artificial int...
BACKGROUND: Studies correlating specific genetic mutations and treatment response are ongoing to establish an effective treatment strategy for gastric cancer (GC). To facilitate this research, a cost- and time-effective method to analyze the mutation...
Although genomic alterations drive the pathogenesis of acute myeloid leukemia (AML), traditional classifications are largely based on morphology, and prototypic genetic founder lesions define only a small proportion of AML patients. The historical su...
Gene expression profiling has played a significant role in the identification and classification of tumor molecules. In gene expression data, only a few feature genes are closely related to tumors. It is a challenging task to select highly discrimina...
In recent years, single-cell RNA sequencing (scRNA-seq) technologies have been widely adopted to interrogate gene expression of individual cells; it brings opportunities to understand the underlying processes in a high-throughput manner. Deep embedde...
Alkaptonuria (AKU, OMIM: 203500) is an autosomal recessive disorder caused by mutations in the Homogentisate 1,2-dioxygenase (HGD) gene. A lack of standardized data, information and methodologies to assess disease severity and progression represents ...
BACKGROUND/AIM: We aimed to investigate the role of radiogenomic and deep learning approaches in predicting the KRAS mutation status of a tumor using radiotherapy planning computed tomography (CT) images in patients with locally advanced rectal cance...
It is of considerable interest to detect somatic mutations in paired tumor and normal sequencing data. A number of callers that are based on statistical or machine learning approaches have been developed to detect somatic small variants. However, the...
The identification of hidden responders is often an essential challenge in precision oncology. A recent attempt based on machine learning has been proposed for classifying aberrant pathway activity from multiomic cancer data. However, we note several...
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