Browsing by Subject "Human genetics"
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Functional Evaluation of Causal Mutations Identified in Human Genetic Studies
(2016)Human genetics has been experiencing a wave of genetic discoveries thanks to the development of several technologies, such as genome-wide association studies (GWAS), whole-exome sequencing, and whole genome sequencing. Despite ... -
Genetic and Environmental Contributions to Baseline Cognitive Ability and Cognitive Response to Topiramate
(2010)Although much research has focused on cognitive ability and the genetic and environmental factors that might influence it, this aspect of human nature is still far from being well understood. It has been well-established ... -
Genetic Dissection of Chiari Type I Malformation
(2013)Chiari Type I Malformation (CMI) is a developmental disorder characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. While there are multiple ... -
Whole-exome Sequencing in Rare Diseases and Complex Traits: Analysis and Interpretation
(2017)Next-generation sequencing (NGS), including whole-exome sequencing (WES) and whole-genome sequencing (WGS), has dramatically empowered the human genetic analysis of disease. This is clearly demonstrated by the exponential ...
