AI Medical Compendium Journal:
Molecular genetics & genomic medicine

Showing 1 to 3 of 3 articles

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.

Molecular genetics & genomic medicine Sep 22, 2020
BACKGROUND: Current copy number variation (CNV) identification methods have rapidly become mature. However, the postdetection processes such as variant interpretation or reporting are inefficient. To overcome this situation, we developed REDBot as an...
Humans Software Electronic Health Records DNA Copy Number Variations Natural Language Processing Genetic Testing Prenatal Diagnosis
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FF-QuantSC: accurate quantification of fetal fraction by a neural network model.

Molecular genetics & genomic medicine Apr 13, 2020
BACKGROUND: Noninvasive prenatal testing (NIPT) is one of the most commonly employed clinical measures for screening of fetal aneuploidy. Fetal Fraction (ff) has been demonstrated to be one of the key factors affecting the performance of NIPT. Accura...
Humans Neural Networks, Computer Software Pregnancy Female Adult Sensitivity and Specificity Sequence Analysis, DNA Noninvasive Prenatal Testing
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Identification and Validation of Biomarkers in Metabolic Dysfunction-Associated Steatohepatitis Using Machine Learning and Bioinformatics.

Molecular genetics & genomic medicine Feb 1, 2025
BACKGROUND: The incidence of metabolic dysfunction-associated steatohepatitis (MASH) is increasing annually. MASH can progress to cirrhosis and hepatocellular carcinoma. However, the early diagnosis of MASH is challenging.
Humans Machine Learning Biomarkers Animals Transcriptome Mice Fatty Liver Computational Biology
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