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Updated: May 30, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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RetroFun-RVS:用于罕见变异分析的回顾性基于家族的框架,包含功能性注释

Loïc Mangnier1,2,3, Ingo Ruczinski4, Jasmin Ricard2

  • 1Department of Social and Preventive Medicine, Laval University, Quebec City, Quebec, Canada.

Genetic epidemiology
|January 29, 2025
PubMed
概括

这项研究介绍了RetroFun-RVS,这是一种强大的新方法,用于分析家族中的罕见遗传变异,以了解复杂的疾病. 它有效地使用功能注释来识别与疾病相关的监管机制.

关键词:
三维基因组是3D的没有编码的基因组.基于谱系的关联测试是基于谱系的关联测试.变体共享变体共享.

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