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Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

机译：遗传疾病的测量作为接受全基因组测序的婴儿死亡的原因

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摘要

Human Phenotype Ontology (HPO) terms that differed significantly in frequency among 30 infants who died and 282 infants who survived.

机译：人类表型本体（HPO）术语在死亡和282名幸存下的婴儿的频率之间有显着差异。

著录项

期刊名称 NPJ Genomic Medicine
作者
Stephen F. Kingsmore; Audrey Henderson; Mallory J. Owen; Michelle M. Clark; Christian Hansen; David Dimmock; Christina D. Chambers; Laura L. Jeliffe-Pawlowski; Charlotte Hobbs;
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作者单位

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年(卷),期 2020(-1),-1
年度 2020
页码 -1
总页数 10
原文格式 PDF
正文语种
中图分类生化遗传学;生化药理学;
关键词

机译：分子药;

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专利

1. Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing [J] . Stephen F. Kingsmore, Audrey Henderson, Mallory J. Owen, NPJ genomic medicine. . 2020,第1期

机译：遗传疾病的测量作为接受全基因组测序的婴儿死亡的原因
2. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases [J] . David Bick, Marilyn Jones, Stacie L Taylor, Journal of Medical Genetics . 2019,第12期

机译：婴儿和稀有，未诊断或遗传疾病的儿童基因组测序案例
3. Complex genetics of pulmonary diseases: lessons from genome-wide association studies and next-generation sequencing [J] . Pouladi Nima, Bime Christian, Garcia Joe G. N., Translational research: the journal of laboratory and clinical medicine . 2016,第Null期

机译：肺部疾病的复杂遗传学：全基因组关联研究和下一代测序的经验教训
4. 4 Set-Based Gene × Environment Interaction Tests for Complex Diseases with Application to Genome-Wide Association and Sequencing Studies [C] . Shuo Jiao Symposium of the University of Georgia s Center for Contextual Genetics and Prevention Science . 2016

机译：基于4种基因×环境相互作用试验，复杂疾病应用于基因组 - 宽协会和测序研究
5. Model-based population genetics in indigenous humans: Inferences of demographic history, adaptive selection, and African archaic admixture using whole-genome/exome sequencing data [D] . Hsieh, PingHsun. 2016

机译：土着人群中基于模型的人口遗传学：使用全基因组/外壳测序数据的人口历史，自适应选择和非洲古代混合物的推论
6. The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia congenital heart disease and recurrent infections [O] . Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, 2018

机译：危重病婴儿早期使用全基因组快速测序的案例：晚期先天性左diaphragm肌疝先天性心脏病和反复感染的婴儿的Coffin-Siris综合征晚期诊断
7. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases [O] . David Bick, Marilyn Jones, Stacie L Taylor, 2019

机译：婴儿和稀有，未确诊或遗传疾病的儿童基因组测序案例

Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

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