Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record [0.03%]
基因组进入电子医疗记录过程中的实际问题和伦理挑战
Adam A Nishimura,Peter Tarczy-Hornoch,Brian H Shirts
Adam A Nishimura
Recent successes in the use of gene sequencing for patient care highlight the potential of genomic medicine. For genomics to become a part of usual care, pertinent elements of a patient's genomic test must be communicated to the most approp...
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses [0.03%]
从综合征型到非综合征型颅缝早闭的遗传和基因组连续性：缩小差距
Yann Heuzé,Gregory Holmes,Inga Peter et al.
Yann Heuzé et al.
Craniosynostosis, a condition that includes the premature fusion of one or multiple cranial sutures, is a relatively common birth defect in humans and the second most common craniofacial anomaly after orofacial clefts. There is a significan...
Geographical, environmental and pathophysiological influences on the human blood transcriptome [0.03%]
地理、环境及病理生理学因素对人类血液转录组的影响
Rubina Tabassum,Artika Nath,Marcela Preininger et al.
Rubina Tabassum et al.
Gene expression variation provides a read-out of both genetic and environmental influences on gene activity. Geographical, genomic and sociogenomic studies have highlighted how life circumstances of an individual modify the expression of hu...
Donna M Martin
Donna M Martin
Epigenetic events including chromatin remodeling and histone modifications have recently emerged as important contributors to a variety of neurodevelopmental disorders. This review focuses on CHARGE syndrome, a multiple anomaly condition ca...
Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease [0.03%]
散发性阿尔茨海默病的遗传变异及相关生物标志物
Rita Guerreiro,Jose Bras,Jamie Toombs et al.
Rita Guerreiro et al.
From a neuropathological perspective, elderly patients who die with a clinical diagnosis of sporadic Alzheimer's disease (AD) are a heterogeneous group with several different pathologies contributing to the AD phenotype. This poses a challe...
The Influences of Genetic and Environmental Factors on Methylome-wide Association Studies for Human Diseases [0.03%]
遗传和环境因素对人类疾病全甲基化组关联研究的影响
Yan V Sun
Yan V Sun
DNA methylation (DNAm) is an essential epigenetic mechanism for normal development, and its variation may be associated with diseases. High-throughput technology allows robust measurement of DNA methylome in population studies. Methylome-wi...
After Myriad: Genetic Testing in the Wake of Recent Supreme Court Decisions about Gene Patents [0.03%]
迈药厂之后：最高法院关于基因专利近期决策背景下的遗传检测
Robert Cook-Deegan,Annie Niehaus
Robert Cook-Deegan
Genetic testing is becoming more common and more powerful by the day. The costs of the underlying DNA sequencing technology are plummeting, making it likely that tests based on it will become even more pervasive. The use of tests to determi...
Ingrid A Holm
Ingrid A Holm
As sequencing becomes integrated into clinical medicine, many complex ethical questions arise regarding the return of genomic information, especially in pediatrics. Issues center on the best interests of the child, particularly in return of...
CNVs in Epilepsy [0.03%]
癫痫的拷贝数变异
Heather C Mefford
Heather C Mefford
Copy number variants (CNVs) are deletions or duplications of DNA. CNVs have been increasingly recognized as an important source of both normal genetic variation and pathogenic mutation. Technologies for genome-wide discovery of CNVs facilit...
Erin Rooney Riggs,David H Ledbetter,Christa Lese Martin
Erin Rooney Riggs
One of the most fundamental goals of the study of human genetics was to determine the relationship between genomic variation and human disease. The effects of large-scale structural variation, such as aneuploidy and other cytogenetically vi...