A study of I-functions of two variables

In our present investigation we propose to study and develop the I-function of two variables analogous to the I-function of one variable introduced  and studied by one of the  authors [25]. The conditions for convergence, series representation, behaviour for small values, elementary properties, transformation formulas and some special cases for the I-function of two variables are also discussed

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals where it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologs. Using RNA-sequencing, we show how 5’ splice site usage is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 bp region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide

Is Ranganathan a Pragmatic Philosopher? Reading the Five Laws of Library Science in the Light of Ancient Indian Philosophy

Hindu tradition of India is one among the oldest civilizations of the world. Indian philosophy put forward a Universal view which is rooted in Freedom. It always embraces the Eternal nature of this universe. It is these principles that work in the five fundamental laws of Library and information science of S.R. Ranganathan which in turn assures his philosophical and pragmatic nature

Bibliotheca: The Road to Wisdom

There is a path which takes any creative intellect from the world of information to that of wisdom through the world of knowledge. This path for creative realization is indeed resonant with the \u27Upanishadic\u27 method of spiritual realization, i.e. the transformative ideology of the East, consisting of the phases of \u27Sravana\u27, \u27Manana\u27, and \u27Nididhyasana\u27 in that order, with the outcome of the phases being Information, Knowledge and Wisdom respectively. This has been seen to be true in the case of legendary literary work and unparalleled epic of the East, \u27Mahabharata\u27, inspired the master writer of India, MT Vasudevan Nair in penning an equally legendary work \u27Randamoozham\u27 (Second Turn), in this comparatively limited linguistic realm and the role played by libraries in that creative endeavor. The literary creative route of \u27Randamoozham\u27 the author vindicating the hypothesis; \u27Library is the right fulgent path for transforming information through knowledge to wisdom.\u2

Is Ranganathan a Pragmatic Philosopher? Reading the Five Laws of Library Science in the Light of Ancient Indian Philosophy

Hindu tradition of India is one among the oldest civilizations of the world. Indian philosophy put forward a Universal view which is rooted in Freedom. It always embraces the Eternal nature of this universe. It is these principles that work in the five fundamental laws of Library and information science of S.R. Ranganathan which in turn assures his philosophical and pragmatic nature