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A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions
Authors:Rocky Cheung  Kimberly D Insigne  David Yao  Christina P Burghard  Jeffrey Wang  Yun-Hua E Hsiao  Eric M Jones  Daniel B Goodman  Xinshu Xiao  Sriram Kosuri
Institution:1. Department of Chemistry and Biochemistry, University of California, Los Angeles, Los Angeles, CA 90095, USA;2. Bioinformatics Interdepartmental Graduate Program, University of California, Los Angeles, Los Angeles, CA 90095, USA;3. Department of Genetics, Stanford University, Stanford, CA 94035, USA;4. Department of Bioengineering, University of California, Los Angeles, Los Angeles, CA 90095, USA;5. Department of Microbiology and Immunology, University of California, San Francisco, San Francisco, CA 94143, USA;6. Department of Integrative Biology and Physiology, University of California, Los Angeles, Los Angeles, CA 90095, USA;7. Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA;8. UCLA-DOE Institute for Genomics and Proteomics, Quantitative and Computational Biology Institute, Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, Jonsson Comprehensive Cancer Center, University of California, Los Angeles, Los Angeles, CA 90095, USA
Abstract:
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  • Keywords:splicing  exon recognition  rare variation  population variation  variant classification  massively parallel reporter assay
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