首页> 外国专利> A METHOD OR SYSTEM FOR IDENTIFICATION OF A CAUSATIVE MUTATION CAUSING A PHENOTYPE OF INTEREST IN A TEST SAMPLE

A METHOD OR SYSTEM FOR IDENTIFICATION OF A CAUSATIVE MUTATION CAUSING A PHENOTYPE OF INTEREST IN A TEST SAMPLE

机译:一种用于鉴定致病性突变的方法或系统,导致测试样品中感兴趣的表型

摘要

A method for identifying a mutation associated with a phenotype of interest in a non- vascular plant, wherein the method comprises (a) aligning the DNA sequence of a reference DNA sequence and identifying a first set of sequence mismatches between the two sequences; wherein the test sample is from a mutagenized non-vascular plant; (b) aligning the DNA sequence of at least one comparison sample to the reference DNA sequence and identifying a second set of sequence mismatches between the two sequences; (c) filtering the first set of mismatches with respect to the second set of mismatches to identify a subset of mismatches that are unique to the first set of mismatches, wherein the subset of mismatches are candidate mutations for the causative mutation; wherein the test sample is from a non-vascular plant exhibiting the phenotype of interest and wherein the at least one comparison sample is from an independent non- vascular plant of the same genus that does not exhibit the phenotype of interest; and wherein the reference DNA sequence is a known reference sequence for a non-vascular plant of the genus. In addition, a method for identifying a mutation associated with a phenotype of interest in a non-vascular plant, wherein the method comprises a) aligning the DNA sequence of a reference DNA sequence and identifying a first set of sequence mismatches between the two sequences; wherein the test sample is from a mutagenized non-vascular plant; (b) aligning the DNA sequence of at least one comparison sample to the reference DNA sequence and identifying a second set of sequence mismatches between the two sequences; (c) filtering the first set of mismatches with respect to the second set of sequence mismatches to identify a subset of mismatches that are common to the first and second sets of sequence mismatches wherein the test sample and the comparison sample(s) are from independent non-vascular plants exhibiting the phenotype of interest and wherein the independent non-vascular plants are the same genus; and wherein the reference DNA sequence is a known reference sequence or a non-vascular plant of the genus or a non-vascular plant of the genus.
机译:一种鉴定与非血管植物中感兴趣表型相关的突变的方法,其中该方法包括(a)对准参考DNA序列的DNA序列并鉴定两个序列之间的第一组序列错配;其中测试样品来自诱变的非血管植物; (b)将至少一个比较样品的DNA序列与参考DNA序列的对齐,并鉴定两个序列之间的第二组序列失配; (c)过滤关于第二组错配的第一组不匹配,以识别对第一组错配的不匹配的子集,其中不匹配的子集是致病突变的候选突变;其中测试样品来自表现出感兴趣的表型的非血管植物,并且其中至少一个比较样品来自同一属的独立非血管植物,该植物不表现出感兴趣的表型;并且其中参考DNA序列是本属的非血管植物的已知参考序列。另外,一种用于鉴定与非血管植物中感兴趣的表型相关的突变的方法,其中该方法包括A)对准参考DNA序列的DNA序列并鉴定两个序列之间的第一组序列错配;其中测试样品来自诱变的非血管植物; (b)将至少一个比较样品的DNA序列与参考DNA序列的对齐,并鉴定两个序列之间的第二组序列失配; (c)在第二组序列错配滤波中过滤第一组不匹配,以识别与第一和第二组序列错配的不匹配的子集,其中测试样本和比较样本来自独立表现出感兴趣表型的非血管植物,其中独立的非血管植物是相同的属性;并且其中参考DNA序列是已知的本体或非血管植物的已知参考序列或非血管植物。

著录项

  • 公开/公告号EP3846613A2

    专利类型

  • 公开/公告日2021-07-14

    原文格式PDF

  • 申请/专利权人 OXFORD UNIVERSITY INNOVATION LIMITED;

    申请/专利号EP20190766108

  • 发明设计人 CHAMPION CLEMENT;DOLAN LIAM;

    申请日2019-09-05

  • 分类号A01H1/04;C12N15;G16B20/20;G16B20/50;G16B30/10;

  • 国家 EP

  • 入库时间 2022-08-24 19:55:43

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