Control-independent mosaic single nucleotide variant detection with DeepMosaic - Nature Biotechnology

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Control-independent mosaic single nucleotide variant detection with DeepMosaic - Nature Biotechnology
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New computer program 'learns' to identify mosaic mutations that cause disease ucsandiego NatureBiotech

Chung, C. et al. Comprehensive multiomic profiling of somatic mutations in malformations of cortical development.We thank Y. Dou for helping to set up the MosaicForecast pipeline. We thank M. K. Gilson for the help with computational resources. We thank P. J. Park, G. W. Cottrell, J. V. Moran, M. Gymrek, P. J. Reed, A. Y. Huang, S.-J. Cheng and Y. Chen for their valuable comments, help and suggestions.

Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USADepartment of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USADepartment of Cellular and Molecular Medicine, UC San Diego, La Jolla, CA, USAYuhe Cheng & Ludmil B.

Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USAJonathan L. SebatAugust Y. Huang, Alissa D’Gama, Caroline Dias, Christopher A.

Andrew Jaffe, Apua Paquola, Daniel Weinberger, Jennifer Erwin, Jooheon Shin, Michael McConnell, Richard Straub & Rujuta NarurkarSalk Institute for Biological Studies, La Jolla, CA, USAAlexander Urban, Bo Zhou & Xiaowei ZhuAitor S. Amero, David Juan, Inna Povolotskaya, Irene Lobon, Manuel S. Moruno, Raquel G. Perez & Tomas Marques-BonetUniversity of California, Los Angeles, Los Angeles, CA, USADiane Flasch, Trenton Frisbie, Huira Kopera, Jeffrey Kidd, John Moldovan, John V.

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