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Method and System for Identifying Clinical Phenotypes in Whole Genome DNA Sequence Data
Method and System for Identifying Clinical Phenotypes in Whole Genome DNA Sequence Data
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机译:鉴定全基因组DNA序列数据中临床表型的方法和系统
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摘要
High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.
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