Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims t
A unified genetic theory for sporadic and inherited autism. Proc. Natl Acad. Sci. USA 104, 12831–12836 (2007). Article CAS ADS Google Scholar Robinson, E. B., Lichtenstein, P., Anckarsater, H., Happe, F. & Ronald, A. Examining and interpreting the female protective effect against ...
Molecular databases exist for chromosome abnormalities, gene expression, gene structure, mutations, gene sequences, genetic disorders, protein motifs, and protein structure; details on many databases are available at the Oxford Journals website. The United States, Europe, and Japan have their own ...
Wyatt, Paul E. Klotman, in Genetic Diseases of the Kidney, 2009 The HIV-1 Viral Genome The structure of the infectious HIV-1 virion is shown schematically in Figure 47.4. The single-stranded RNA genome consists of nine genes and two identical long terminal repeats (Mandell 2000). Gag gene...
Sex-specific traits and behaviors emerge during development by the acquisition of unique properties in the nervous system of each sex. However, the genetic events responsible for introducing these sex-specific features remain poorly understood. In this s
The GO Annotation Tool (accessible through "single search" mode in the NMC Annotation Tool) enables the addition of new, user defined GO annotations as well as the curation of GO annotations e.g. annotations with evidence code IEA. GO Annotation Tool is supported by a GO term search system...
[27], “GENCODE Gene” track, mixture components (“ChromGene”), and components’ hidden states (“Hidden States”; red: state 1, yellow: state 2, green: state 3). Importantly, components’ hidden states are not comparable across different components and are not used in any analysis in ...
The sequence of bases along a strand of DNA determines thegenetic code. When the product of a particular gene is needed, the portion of the DNA molecule that contains that gene will split. Through the process oftranscription, a strand of RNA with basescomplementaryto those of the gene is cr...
[29]. Unfortunately, the different designs and methodologies of several other studies thwart any performance comparisons with their proposed genetic models. Thus, Brook et al. [9] assessed the performance of ClearCode34, which classifies ccRCC into ccA and ccB subtypes, ccB presented tumor relapse...
or assays. Parallel research has begun to address this shortcoming via representation learning of cell types and assays and could make use of the Enformer architecture in the future34,35. The sensitivity of the model to genetic variants could be further improved by training upon the growing ...