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Performance of case-control rare copy number variation annotation in classification of autism

机译：病例对照的稀有拷贝数变异注释在自闭症分类中的表现

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摘要

BackgroundA substantial proportion of Autism Spectrum Disorder (ASD) risk resides in de novo germline and rare inherited genetic variation. In particular, rare copy number variation (CNV) contributes to ASD risk in up to 10% of ASD subjects. Despite the striking degree of genetic heterogeneity, case-control studies have detected specific burden of rare disruptive CNV for neuronal and neurodevelopmental pathways. Here, we used machine learning methods to classify ASD subjects and controls, based on rare CNV data and comprehensive gene annotations. We investigated performance of different methods and estimated the percentage of ASD subjects that could be reliably classified based on presumed etiologic CNV they carry.

机译：背景自闭症谱系障碍（ASD）风险中的很大一部分存在于从头种系和罕见的遗传变异中。特别是，罕见拷贝数变异（CNV）会导致多达10％的ASD受试者患ASD风险。尽管遗传异质性的程度惊人，但病例对照研究发现神经元和神经发育途径的罕见破坏性CNV的特殊负担。在这里，我们基于稀有的CNV数据和全面的基因注释，使用机器学习方法对ASD受试者和对照进行分类。我们调查了不同方法的性能，并估计了根据其携带的病因CNV可以可靠分类的ASD受试者的百分比。

著录项

期刊名称 BMC Medical Genomics
作者
Worrawat Engchuan; Kiret Dhindsa; Anath C Lionel; Stephen W Scherer; Jonathan H Chan; Daniele Merico;
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作者单位

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年(卷),期 2015(8),Suppl 1
年度 2015
页码 S7
总页数 10
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Copy number variation (CNV) Autism Spectrum Disorders (ASD) rare genetic variants machine learning classification Random Forest (RF);

机译：拷贝数变异（CNV）;自闭症谱系障碍（ASD）;稀有遗传变异;机器学习分类;随机森林（RF）;

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专利

1. Performance of case-control rare copy number variation annotation in classification of autism [J] . Worrawat Engchuan, Kiret Dhindsa, Anath C Lionel, BMC Medical Genomics . 2015,第SUPPLEMENTa1期

机译：病例对照的稀有拷贝数变异注释在自闭症分类中的表现
2. WHOLE EXOME SEQUENCING STUDY IDENTIFIES RARE COPY NUMBER VARIATIONS FOR LATE-ONSET ALZHEIMER’S DISEASE: THE ALZHEIMER’S DISEASE SEQUENCING PROJECT CASE-CONTROL ANALYSIS [J] . Xueqiu Jian, Theodore Chiang, Kim C. Worley, Alzheimer’s & dementia: the journal of the Alzheimer’s Association . 2018,第7期

机译：整体外序测序研究识别罕见的阿尔茨海默病的罕见拷贝数变异：阿尔茨海默病的疾病测序项目案例控制分析
3. Identification of rare copy number variations reveals PJA2 , APCS , SYNPO , and TAC1 as novel candidate genes in Autism Spectrum Disorders [J] . Tania Bitar, Walid Hleihel, Sylviane Marouillat, Molecular Genetics & Genomic Medicine . 2019,第8期

机译：罕见拷贝数变异的鉴定揭示了PJA2，APC，SYNPO和TAC1作为自闭症谱系疾病中的新型候选基因
4. BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN [C] . DOKYOON KIM, ANASTASIA LUCAS, JOSEPH GLESSNER, Pacific Symposium on Biocomputing . 2016

机译：生物过滤器作为常用和罕见拷贝数负担的功能注释管道
5. Predictive Impact of Rare Genomic Copy Number Variations in Infant Siblings of Individuals with Autism Spectrum Disorder [D] . D'Abate, Lia. 2021

机译：稀有基因组拷贝数变异对自闭症谱系疾病婴幼儿兄弟姐妹的预测影响
6. Identification of rare copy number variations reveals PJA2 APCS SYNPO and TAC1 as novel candidate genes in Autism Spectrum Disorders [O] . Tania Bitar, Walid Hleihel, Sylviane Marouillat, 2019

机译：罕见拷贝数变异的鉴定揭示了PJA2APCSSYNPO和TAC1是自闭症谱系障碍中的新候选基因
7. Performance of case-control rare copy number variation annotation in classification of autism [O] . Worrawat Engchuan, Kiret Dhindsa, Anath C Lionel, 2015

机译：病例对照的稀有拷贝数变异注释在自闭症分类中的表现

Performance of case-control rare copy number variation annotation in classification of autism

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