首页> 美国卫生研究院文献>other >The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

【2h】

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

机译：外显子组测序对家族性偶然发现的影响：NIH未诊断疾病计划的经验

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

PurposeUsing exome sequence data from 159 families participating in the NIH Undiagnosed Diseases Program, we evaluated the number and inheritance of reportable incidental sequence variants.

机译：目的使用来自159个参与NIH未诊断疾病计划的家庭的外显子组序列数据，我们评估了可报告的偶然序列变体的数量和遗传。

著录项

期刊名称 other
作者
Lauren Lawrence; Murat Sincan; Thomas Markello; David R Adams; Fred Gill; Rena Godfrey; Gretchen Golas; Catherine Groden; Dennis Landis; Michele Nehrebecky; Grace Park; Ariane Soldatos; Cynthia Tifft; Camilo Toro; Colleen Wahl; Lynne Wolfe; William A. Gahl; Cornelius F. Boerkoel;
展开▼
作者单位

展开▼
年(卷),期 -1(16),10
年度 -1
页码 741–750
总页数 21
原文格式 PDF
正文语种
中图分类
关键词
incidental findings NIH Undiagnosed Diseases Program exome sequencing familial secondary variants;

机译：偶然发现;NIH未诊断疾病计划;外显子组测序;家族;继发变体;

相似文献

外文文献
中文文献
专利

1. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. [J] . Lauren Lawrence, Murat Sincan, Thomas Markello, Genetics in medicine . 2014,第10期

机译：外显子组测序家族偶然发现的含义：NIH未诊断疾病计划的经验。
2. Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience [J] . Lee Elizabeth M. J., Xu Karen, Mosbrook Emma, Genetics in medicine . 2016,第12期

机译：308个家庭的药物基因组学偶然发现：NIH未诊断疾病计划的经验
3. Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings [J] . American journal of medical genetics, Part A . 2014,第11期

机译：遗传疾病家庭中外显子组测序研究的知情同意：附带发现的新问题
4. Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases [C] . Jorge Oliveira, Rute Pereira, Rosario Santos, International Conference on Bioinformatics Models, Methods and Algorithms . 2017

机译：纯合子映射使用全exome测序：一种有价值的遗传疾病致病变异鉴定的方法
5. Discovery of novel genes that cause rare pediatric renal diseases using whole-exome sequencing [D] . Lemaire, Mathieu. 2015

机译：使用全基因组测序发现导致罕见的小儿肾脏疾病的新基因
6. Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Disease Program experience [O] . Elizabeth M.J. Lee, Karen Xu, Emma Mosbrook, -1

机译：308个家庭的药物基因组学偶然发现：NIH未诊断疾病计划的经验
7. Distributed cognition and process management enabling individualized translational research: The NIH Undiagnosed Diseases Program experience [O] . Amanda E Links, David Draper, Elizabeth Lee, 2016

机译：分布式认知和过程管理实现个性化的转化研究：NIH未确诊的疾病计划经验

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

摘要

著录项

相似文献

相关主题

期刊订阅