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A METHOD AND APPARATUS FOR COLLABORATIVE VARIANT SELECTION AND THERAPY MATCHING REPORTING

机译:协同变量选择和治疗匹配报告的方法和装置

摘要

A genetic sequencer (10) generates DNA reads (16) from a tissue sample of a current patient. The DNA reads are aligned (18) with a reference DNA sequence (20) to generate a DNA sequence (22) of the current patient. Variant calling (24) is performed to generate a list of genetic variants (26) contained in the DNA sequence of the current patient. Occurrences are determined of genetic variants in one or more reference databases (44) storing genetic variants of medical patients. It is determined whether genetic variants of the list of genetic variants are synonymous. Scores are assigned for genetic variants based at least on measures of correlation of the genetic variants with disease. A ranked list (32) of top-scoring genetic variants is generated based on the assigned scores, and the ranked list is displayed on a display (36).
机译:基因测序仪(10)从当前患者的组织样品中产生DNA读数(16)。将DNA读段与参考DNA序列(20)比对(18),以产生当前患者的DNA序列(22)。进行变体调用(24)以产生包含在当前患者的DNA序列中的遗传变体(26)的列表。在存储医学患者遗传变异的一个或多个参考数据库(44)中确定遗传变异的发生。确定遗传变异列表中的遗传变异是否同义。至少基于遗传变异与疾病的相关性度量,为遗传变异分配分数。基于分配的分数,产生得分最高的遗传变异的排名列表(32),并且该排名列表显示在显示器(36)上。

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