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Дата публикации: 2017-12-06 20:25

GDI values were mined from the Human Gene Damage Index (GDI) database ( see publication ). The GDI is the accumulated mutational damage of each human gene in the general human population. Highly damaged human genes are unlikely to be disease-causing, hence GDI might be used to filter out variants harbored in highly damaged (high GDI) genes that are unlikely to be disease-causing. For every gene the Phred-scale GDI score is shown along with the GDI percentile, using all disease causing genes as a reference set. More specific reference sets are provided at the GDI database.

C. elegans - WormBook

If you encounter difficulties with slow download speeds, try using UDT Enabled Rsync (UDR), which improves the throughput of large data transfers over long distances. The 87-bit and 69-bit versions can be downloaded here.

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Measurements were obtained for 76 normal human tissues and compartments hybridized against HG-U688A. The Affymetrix MAS5 algorithm was used for array processing and probesets were averaged per gene.

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Figure 6. C. elegans mutant phenotypes. Wild-type animals (WT) are approximately 6 mm long with a smooth exterior, and they move in a sinusoidal pattern. Rolling ( Rol ) animals twist their body like a corkscrew and as a result often remain in the same region moving in a circular pattern. Dumpy ( Dpy ) animals are shorter than wild-type. Multivulvae ( Muv ) hermaphrodites have protrusions along the ventral side (white arrowheads) where vulvae form but are not able to attach to the uterus. Strain sources: D. Eisenmann and A. Golden.

In this study, published in Genome Biology, Elurbe et al. identify non-allelic homologous recombination between old repeats as the likely source of deletions that happen much more frequently on the S subgenome in .

This table lists human phenotypes that were found to be linked to the gene by the Human Phenotype Ontology project. The HPO project has generated a set of 65,588 classes (terms) describing human phenotypic abnormalities. Links between phenotypes to genes are generated using the information about the phenotypes of a particular syndrome and the corresponding genes that are known to cause this syndrome when mutated. For each gene, the table first displays the most specific relevant HPO-classes (in bold), followed by their ancestor terms. (This approach implements the transitivity of the HPO annotation method).

Presents a deep link to the SIGnaling Network Open Resource (SIGNOR), as well as a list of interacting genes, all linked to their GeneCards. The interactions are categorized as Activates, Inactivates, Is activated by, Is inactivated by, or Other effect.

Here for the first time, WormBook and GENETICS co-publish an article. We wish to thank Tracey DePellegrin, Ruth Isaacson, and Elizabeth De Stasio of GENETICS for their dedication to this collaboration, as well as Editor-in-Chief Mark Johnston for his support of the project.

Genic intolerance – The ExAC RVIS (Residual Variation Intolerance Score based on the Exome Aggregation Consortium data) was mined from the Genic Intolerance database ( see publication ). The intolerance scoring system assesses whether genes have relatively more or less functional genetic variation than expected based on the apparently neutral variation found in the gene. Genes responsible for Mendelian diseases are significantly more intolerant to functional genetic variation than genes that do not cause any known disease. For each gene, the tolerance percentile is shown. Genes in the 75th percentile and below are considered intolerant to variation.

Our goal is to use these two types of annotations in order to measure the functionality of GeneCards genes. Our first step, was to produce for each gene, a binary vector of 67 elements , indicating presence or absence of data in each relevant source. The GIFtS score of a particular gene is a percentage which is derived from the sum of these binary values divided by the number of sources (the vector length).