AIMC Topic: Exome

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A machine learning approach for somatic mutation discovery.

Science translational medicine
Variability in the accuracy of somatic mutation detection may affect the discovery of alterations and the therapeutic management of cancer patients. To address this issue, we developed a somatic mutation discovery approach based on machine learning t...

Deep learning of genomic variation and regulatory network data.

Human molecular genetics
The human genome is now investigated through high-throughput functional assays, and through the generation of population genomic data. These advances support the identification of functional genetic variants and the prediction of traits (e.g. deleter...