首页>
外国专利>
SYSTEMS AND METHODS FOR PROVIDING IMPROVED PREDICTION OF CARRIER STATUS FOR SPINAL MUSCULAR ATROPHY
SYSTEMS AND METHODS FOR PROVIDING IMPROVED PREDICTION OF CARRIER STATUS FOR SPINAL MUSCULAR ATROPHY
展开▼
机译:提供改善的脊髓肌萎缩症携带者状态预测的系统和方法
展开▼
页面导航
摘要
著录项
相似文献
摘要
Systems and methods of improved genetic mutation carrier screening may include, for a plurality of genetically similar genes in a reference genome, the plurality of genetically similar genes comprising a functional gene and a non-functional gene, masking the non-functional gene from the reference genome; aligning a plurality of functional gene reads and a plurality of non-functional gene reads of a patient's genetic sequence to the functional gene in the reference genome; tallying, at a first polymorphic locus-of-interest on each aligned read, a respective nucleotide type, wherein functional gene reads comprise a different nucleotide type than non-functional gene reads at the first polymorphic locus-of-interest; and calculating, based at least in part on a result of the tallying, a first gene ratio, wherein the first gene ratio indicates a first ratio of functional gene reads to non-functional gene reads.
展开▼