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A NOVEL ALGORITHM FOR SMN1 AND SMN2 COPY NUMBER ANALYSIS USING COVERAGE DEPTH DATA FROM NEXT GENERATION SEQUENCING
A NOVEL ALGORITHM FOR SMN1 AND SMN2 COPY NUMBER ANALYSIS USING COVERAGE DEPTH DATA FROM NEXT GENERATION SEQUENCING
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机译:利用来自下一代排序的覆盖深度数据进行SMN1和SMN2拷贝数分析的新算法
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摘要
The disclosure concerns methods and compositions for obtaining reliable copy numbers of highly homologous gene(s) using next generation sequencing. The methods determine whether or not an individual is a carrier of an autosomal recessive gene mutation using a determination of copy number of two genes, in specific embodiments. In at least some cases, an individual is identified whether or not he or she is a carrier or affected for a genetic defect in SMN1, wherein the defect is associated with spinal muscular atrophy.
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