Medicine and Health Sciences Commons^™

Isomirmap-Fast, Deterministic, And Exhaustive Mining Of Isomirs From Short Rna-Seq Datasets., Phillipe Loher, Nestoras Karathanasis, Eric R Londin, Paul Bray, Venetia Pliatsika, Aristeidis G. Telonis, Isidore Rigoutsos

Computational Medicine Center Faculty Papers

MOTIVATION: MicroRNA (miRNA) precursor arms give rise to multiple isoforms simultaneously called "isomiRs." IsomiRs from the same arm typically differ by a few nucleotides at either their 5´ or 3´ termini, or both. In humans, the identities and abundances of isomiRs depend on a person's sex, population of origin, race/ethnicity, and on tissue type, tissue state, and disease type/subtype. Moreover, nearly half of the time the most abundant isomiR differs from the miRNA sequence found in public databases. Accurate mining of isomiRs from deep sequencing data is thus important.

RESULTS: We developed isoMiRmap, a fast, standalone, user-friendly mining tool that …

The Transcriptional Trajectories Of Pluripotency And Differentiation Comprise Genes With Antithetical Architecture And Repetitive-Element Content., Aristeidis G. Telonis, Isidore Rigoutsos

Computational Medicine Center Faculty Papers

BACKGROUND: Extensive molecular differences exist between proliferative and differentiated cells. Here, we conduct a meta-analysis of publicly available transcriptomic datasets from preimplantation and differentiation stages examining the architectural properties and content of genes whose abundance changes significantly across developmental time points.

RESULTS: Analysis of preimplantation embryos from human and mouse showed that short genes whose introns are enriched in Alu (human) and B (mouse) elements, respectively, have higher abundance in the blastocyst compared to the zygote. These highly expressed genes encode ribosomal proteins or metabolic enzymes. On the other hand, long genes whose introns are depleted in repetitive elements have …

Machine Learning Approaches Identify Genes Containing Spatial Information From Single-Cell Transcriptomics Data., Phillipe Loher, Nestoras Karathanasis

Computational Medicine Center Faculty Papers

The development of single-cell sequencing technologies has allowed researchers to gain important new knowledge about the expression profile of genes in thousands of individual cells of a model organism or tissue. A common disadvantage of this technology is the loss of the three-dimensional (3-D) structure of the cells. Consequently, the Dialogue on Reverse Engineering Assessment and Methods (DREAM) organized the Single-Cell Transcriptomics Challenge, in which we participated, with the aim to address the following two problems: (a) to identify the top 60, 40, and 20 genes of the Drosophila melanogaster embryo that contain the most spatial information and (b) to …