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1. 发明申请

WO2017173545A1 METHOD OF DETERMINING DISEASE CAUSALITY OF GENOME MUTATIONS 审中-公开
标题翻译：确定基因组突变的疾病成因的方法
公开(公告)号：WO2017173545A1
公开(公告)日：2017-10-12
申请号：PCT/CA2017/050421
申请日：2017-04-06
申请人： THE HOSPITAL FOR SICK CHILDREN
发明人： SCHERER, Stephen , UDDIN, Mohammed
IPC分类号： C12Q1/68 , G01N33/48 , G06F19/20 , G06F19/22
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , G16B20/00 , G16B30/00
摘要： A method of identifying a gene or genomic mutation that is linked to causality of a neuropsychiatric disorder is provided. The method comprises identifying exons which exhibit an expression level that is at least within the 75th percentile of exon expression levels within a nucleic acid-containing sample from a mammal having a neuropsychiatric disorder; comparing the sequence of each identified exon to the sequence of a corresponding exon from a healthy control to identify rare or de novo sequence mutations within the identified exon; calculating the burden of rare or de novo mutations within the exon; and determining the correlation between expression level of the identified exon and burden of de novo or rare mutations in the exon, wherein an inverse correlation indicates that the exon gene is linked to causality of the neuropsychiatric disorder.
摘要翻译：提供了鉴定与神经精神障碍的因果关系相关的基因或基因组突变的方法。该方法包括鉴定显示至少在来自具有神经精神障碍的哺乳动物的含核酸样品内的外显子表达水平的第75百分位内的表达水平的外显子; 将每个鉴定的外显子的序列与来自健康对照的相应外显子的序列进行比较，以鉴定鉴定的外显子内的罕见或从头序列突变; 计算外显子内罕见或从头突变的负担; 并确定鉴定的外显子的表达水平和外显子中从头或罕见突变的负荷之间的相关性，其中逆相关性表明外显子基因与神经精神障碍的因果关系相关。

2. 发明申请

WO2015054777A1 METHOD OF DETERMINING DISEASE CAUSALITY OF GENOME MUTATIONS 审中-公开
标题翻译：确定基因突变的病原体的方法
公开(公告)号：WO2015054777A1
公开(公告)日：2015-04-23
申请号：PCT/CA2014/000753
申请日：2014-10-17
申请人： THE HOSPITAL FOR SICK CHILDREN
发明人： SCHERER, Stephen , UDDIN, Mohammed
IPC分类号： G06F19/22 , C12Q1/68 , G06F19/18
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , G06F19/18 , G06F19/22
摘要： A method of identifying a gene or genomic mutation that is linked to causality of a neuropsychiatric disorder is provided. The method comprises identifying exons which exhibit an expression level that is at least within the 75th percentile of exon expression levels within a nucleic acid-containing sample from a mammal having a neuropsychiatric disorder; comparing the sequence of each identified exon to the sequence of a corresponding exon from a healthy control to identify rare or de novo sequence mutations within the identified exon; calculating the burden of rare or de novo mutations within the exon; and determining the correlation between expression level of the identified exon and burden of de novo or rare mutations in the exon, wherein an inverse correlation indicates that the exon gene is linked to causality of the neuropsychiatric disorder.
摘要翻译：提供了鉴定与神经精神障碍因果关联的基因或基因组突变的方法。该方法包括鉴定表达水平至少在具有神经精神障碍的哺乳动物的含核酸样品内的外显子表达水平的第75百分位数内的外显子; 将每个确定的外显子的序列与来自健康对照的相应外显子的序列进行比较，以鉴定鉴定的外显子内的罕见或从头序列突变; 计算外显子中罕见或从头突变的负担; 并确定所鉴定的外显子的表达水平与外显子中从头或罕见突变的负担之间的相关性，其中反相关指示外显子基因与神经精神障碍的因果关联。

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