THE MUTATIONAL DAMAGE LANDSCAPE ACROSS THE HUMAN GENOME: A GENE-LEVEL APPROACH TO THE SELECTION OF CANDIDATE DISEASE-CAUSING VARIANTS

Itan Yuval; Zhang Shen-Ying; Abel Laurent; Casanova Jean-Laurent

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THE MUTATIONAL DAMAGE LANDSCAPE ACROSS THE HUMAN GENOME: A GENE-LEVEL APPROACH TO THE SELECTION OF CANDIDATE DISEASE-CAUSING VARIANTS

机译：人类基因组的可变损伤景观：选择隐性疾病致病变异的基因水平方法

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来源
《Journal of Clinical Immunology》 |2015年第3期|共1页
作者
Itan Yuval; Zhang Shen-Ying; Abel Laurent; Casanova Jean-Laurent;
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正文语种 eng
中图分类医学免疫学;
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1. THE MUTATIONAL DAMAGE LANDSCAPE ACROSS THE HUMAN GENOME: A GENE-LEVEL APPROACH TO THE SELECTION OF CANDIDATE DISEASE-CAUSING VARIANTS [J] . Itan Yuval, Zhang Shen-Ying, Abel Laurent, Journal of Clinical Immunology . 2015,第3期

机译：人类基因组的可变损伤景观：选择隐性疾病致病变异的基因水平方法
2. Disease-causing mutations in the human genome. [J] . Antonarakis SE, Krawczak M, Cooper DN European journal of pediatrics . 2000,第Suppla3期

机译：人类基因组中的致病突变。
3. On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness [J] . Bryant Laura, Lozynska Olga, Han Grace, Ophthalmic genetics . 2018,第1期

机译：在变体和疾病引起突变：遗传失明中确定的SEMA4A变体的情况
4. Identifying Candidate Cancer Genes Based on Their Somatic Mutations Co-Occurring with Cancer Genes in Cancer Genome Profiling [C] . Zhu Jing, Shen Xiaopei, Zhang Yang, International Conference on Biomedical Engineering and Informatics;BMEI '09 . 2009

机译：基于与癌症基因组分析中的癌症基因同时发生的体细胞突变来鉴定候选癌症基因
5. Characterization of the N-terminal domains and disease-causing mutations of the human Wilson protein. [D] . Muia, Joshua Mutambuki. 2010

机译：人类Wilson蛋白的N末端结构域和致病突变的表征。
6. The human gene damage index as a gene-level approach to prioritizing exome variants [O] . Yuval Itan, Lei Shang, Bertrand Boisson, 2015

机译：人类基因损伤指数作为优先选择外显子组变异的基因水平方法
7. A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis [O] . Matilda Rentoft, Daniel Svensson, Andreas Sjödin, 2019

机译：地理位置匹配的控制群有效地限制了在无偏见的全基因组分析中的候选疾病变种的数量

THE MUTATIONAL DAMAGE LANDSCAPE ACROSS THE HUMAN GENOME: A GENE-LEVEL APPROACH TO THE SELECTION OF CANDIDATE DISEASE-CAUSING VARIANTS

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