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Calculating the statistical significance of rare variants causal for Mendelian and complex disorders

机译：计算孟德尔和复杂疾病因果的罕见变异的统计意义

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摘要

BackgroundWith the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual DNA variation. To calculate the significance of finding a rare protein-altering variant in a given gene, one must know the frequency of seeing a variant in the general population that is at least as damaging as the variant in question.

机译：背景技术随着下一代测序（NGS）在诊断数千种孟德尔遗传病中的广泛应用，能够解释单个DNA变异至关重要。为了计算在给定基因中发现稀有蛋白质改变变体的重要性，人们必须知道在普通人群中看到变体的频率至少与所讨论的变体一样有害。

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期刊名称 BMC Medical Genomics
作者
Aliz R. Rao; Stanley F. Nelson;
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作者单位

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年(卷),期 2018(11),-1
年度 2018
页码 53
总页数 17
原文格式 PDF
正文语种
中图分类遗传学;
关键词
SORVA Intolerance Genes Protein domains Mutational burden Significance Pathogenic;

机译：SORVA;不耐受;基因;蛋白质结构域;突变负担;意义;致病性;

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专利

1. Calculating the statistical significance of rare variants causal for Mendelian and complex disorders [J] . Aliz R. Rao, Stanley F. Nelson BMC Medical Genomics . 2018,第1期

机译：计算因孟德尔和复杂疾病而导致的罕见变异的统计意义
2. Focus on Rare genetic variants in bipolar disorder: how outliers help understand complex disorders [J] . Yoav Kohn The international journal of neuropsychopharmacology . 2005,第4期

机译：专注于双相情感障碍的罕见遗传变异：离群值如何帮助理解复杂疾病
3. Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets [J] . Ionita-LazaI., MakarovV., BuxbaumJ.D. The American Journal of Human Genetics . 2012,第6期

机译：扫描统计方法可在三个数据集中识别LRP2中的罕见疾病变异群，LRP2是与自闭症谱系障碍相关并与之相关的基因
4. The Statistical Significance of Some Numerical Algorithms to Identify Rational Structures in Causal Time Series Models [C] . C. Gonzalez-Concepcion, M. C. Gil-Farina, C. Pestano-Gabino International Conference on Engineering Computational Technology . 2006

机译：一些数值算法识别因果时间序列模型中的合理结构的统计学意义
5. Classification of complex disease incorporating interaction effects and identifying causal SNPs in the context of rare variants. [D] . Wang, Haitian. 2011

机译：复杂疾病的分类，其中包括相互作用效应，并在罕见变体的背景下识别因果SNP。
6. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing [O] . Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, 2018

机译：孟德尔疾病的复杂结构变异：使用短和长读基因组测序的鉴定和断点解析
7. Calculating the statistical significance of rare variants causal for Mendelian and complex disorders [O] . Aliz R Rao, Stanley F Nelson 2017

机译：计算孟德尔和复杂障碍罕见变种因果的统计学意义

Calculating the statistical significance of rare variants causal for Mendelian and complex disorders

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