The human imprintome vl.O: Over 120 imprinted genes in the human genome impose a major review on previous censuses

Abstract

A relatively small number of human genes are marked with their parental origin and undergo a process termed "genomic imprinting", which, as a field of study, has grown rapidly in the last 20 years, with a growing figure of around 100 imprinted genes known in the mouse and approximately 120 in the human to comprise the updated whole set of human imprinted genes, the imprintome. Human imprintome is here analyzed by means of a reasonable, valid application of the Semantic Web and Linked Data approaches to a few structured datasets in order to provide a comprehensive collection of all known and predicted imprinted genes in the human genome. We have examined, compiled, structured and linked data to use them as a sharing resource for genome and epigenome interrogated studies regarding imprinted genes. Moreover, we offer our datasets of structured, linked data as being the actual research outcome of this human imprintome analysis because as genomics become more and more data intensive, due to huge amounts of biological data, so does our needs for more structured data to be easier mined and shared. The resulting version of the Linked Human Imprintome is a project within Linked Open Data (LOD) initiative (http://lod-cloud.net/) through Data Hub (http://thedatahub.org/en/dataset/a-draft-version-of-thelinked-human-imprintome).

ISoLDE: a data-driven statistical method for the inference of allelic imbalance in datasets with reciprocal crosses

“…2 and Table 3 ). Among the seven genes called ‘AI’ in at least one tissue by ISoLDE only ( Supplementary Figs S17 and S19 ), six were previously called ‘AI’ by others ( Babak et al , 2008 ; Chiesa et al , 2012 ; Perez et al , 2015 ; Silva-Santiago et al , 2012 ; Tremblay et al , 1995 ; Wu et al , 2012 ; Xiao et al , 2006 ). Of note, DQ267100 and Snord64 are snoRNAs that might not be annotated in Lorenc’s database.…”