Genetic autopsy of perinatal death: diagnosis and discovery by Genome Sequencing

围产期死亡的基因尸检：基因组测序的诊断和发现

• 批准号: nhmrc : 1123341
• 负责人: A/Pr Christopher Barnett
• 金额: $ 67.55万
• 依托单位: University of South Australia
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 2019-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genetic-autopsy-perinatal-genome-sequencing/947146
• 关键词: Genetic; autopsy; perinatal; death; diagnosis

Stillbirth, miscarriage and genetic termination of pregnancy are common and traumatic events. Despite medical investigation, many of the causes of these events are unexplained. This project plans to employ the latest in whole genome sequencing and functional modelling to explain these occurrences as well as lead to an increase in knowledge of genetics and development.

死产、流产和遗传终止妊娠是常见的创伤性事件。尽管进行了医学调查，但这些事件的许多原因仍未得到解释。该项目计划采用最新的全基因组测序和功能建模来解释这些发生，并导致遗传学和发育知识的增加。