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专利名称：A FRAMEWORK FOR DETERMINING THE
RELATIVE EFFECT OF GENETIC VARIANTS
发明人：Jay Shendure,Gregory M Cooper,Martin
Kircher,Daniela Witten
申请号：US15023355申请日：20140920
公开号：US20160357903A1公开日：20161208
摘要：Current methods for annotating and interpreting human genetic variationtypically exploit only a single information type (e.g., conservation) and/or are restricted inscope (e.g., to missense changes). Here, a method for objectively integrating manydiverse annotations into a single measure (integrated deleteriousness score, or C-score)for each variant is described. The method may be implemented as a support vectormachine (SVM) trained to differentiate high-frequency human-derived alleles fromsimulated variants. C-scores were precomputed for all 8.6 billion possible human single-nucleotide variants and allow scoring of short insertions-deletions. C-scores correlatewith allelic diversity, annotations of functionality, pathogenicity, disease severity,experimentally measured regulatory effects and complex trait associations, and theyhighly rank known pathogenic variants within individual genomes. The ability of CADD toprioritize functional, deleterious and pathogenic variants across many functionalcategories, effect sizes and genetic architectures is unmatched by any current single-annotation method.
申请人：UNIVERSITY OF WASHINGTON THROUGH ITS CENTER FOR
COMMERCIALIZATION,HUDSONSALPHA INSTITUTE FOR BIOTECHNOLOGY
地址：Seattle WA US,Huntsville AL US
国籍：US,US
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