Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
نویسندگان
چکیده
منابع مشابه
Pan-Cancer Analysis of Mutation Hotspots in Protein Domains.
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15 صفحه اولExpanding the Atlas of Functional Missense Variation for Human Genes
Although we now routinely sequence human genomes, we can confidently identify only a fraction of the sequence variants that have a functional impact. Here we developed a deep mutational scanning framework that produces exhaustive maps for human missense variants by combining random codon-mutagenesis and multiplexed functional variation assays with computational imputation and refinement. We app...
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The MutationAligner web resource, available at http://www.mutationaligner.org, enables discovery and exploration of somatic mutation hotspots identified in protein domains in currently (mid-2015) more than 5000 cancer patient samples across 22 different tumor types. Using multiple sequence alignments of protein domains in the human genome, we extend the principle of recurrence analysis by aggre...
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ژورنال
عنوان ژورنال: Nature Neuroscience
سال: 2017
ISSN: 1097-6256,1546-1726
DOI: 10.1038/nn.4589