Search Results - "Belmadani, Manuel"

A comprehensive analysis of 3' end sequencing data sets reveals novel polyadenylation signals and the repressive role of heterogeneous ribonucleoprotein C on cleavage and polyadenylation by Gruber, Andreas J, Schmidt, Ralf, Gruber, Andreas R, Martin, Georges, Ghosh, Souvik, Belmadani, Manuel, Keller, Walter, Zavolan, Mihaela

“…Alternative polyadenylation (APA) is a general mechanism of transcript diversification in mammals, which has been recently linked to proliferative states and…”
Get full text

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction by Post, Kathryn L., Belmadani, Manuel, Ganguly, Payel, Meili, Fabian, Dingwall, Riki, McDiarmid, Troy A., Meyers, Warren M., Herrington, Caitlin, Young, Barry P., Callaghan, Daniel B., Rogic, Sanja, Edwards, Matthew, Niciforovic, Ana, Cau, Alessandro, Rankin, Catharine H., O’Connor, Timothy P., Bamji, Shernaz X., Loewen, Christopher J. R., Allan, Douglas W., Pavlidis, Paul, Haas, Kurt

“…Functional variomics provides the foundation for personalized medicine by linking genetic variation to disease expression, outcome and treatment, yet its…”
Get full text

Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation by McDiarmid, Troy A., Belmadani, Manuel, Liang, Joseph, Meili, Fabian, Mathews, Eleanor A., Mullen, Gregory P., Hendi, Ardalan, Wong, Wan-Rong, Rand, James B., Mizumoto, Kota, Haas, Kurt, Pavlidis, Paul, Rankin, Catharine H.

“…A major challenge facing the genetics of autism spectrum disorders (ASDs) is the large and growing number of candidate risk genes and gene variants of unknown…”
Get full text

Assessing Transcriptome Quality in Patch-Seq Datasets by Tripathy, Shreejoy J, Toker, Lilah, Bomkamp, Claire, Mancarci, B Ogan, Belmadani, Manuel, Pavlidis, Paul

“…Patch-seq, combining patch-clamp electrophysiology with single-cell RNA-sequencing (scRNAseq), enables unprecedented access to a neuron's transcriptomic,…”
Get full text

VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing Studies by Belmadani, Manuel, Jacobson, Matthew, Holmes, Nathan, Phan, Minh, Nguyen, Tue, Pavlidis, Paul, Rogic, Sanja

“…Recent years have seen a boom in the application of the next‐generation sequencing technology to the study of human disorders, including Autism Spectrum…”
Get full text

Curation of over 10 000 transcriptomic studies to enable data reuse by Lim, Nathaniel, Tesar, Stepan, Belmadani, Manuel, Poirier-Morency, Guillaume, Mancarci, Burak Ogan, Sicherman, Jordan, Jacobson, Matthew, Leong, Justin, Tan, Patrick, Pavlidis, Paul

“…Vast amounts of transcriptomic data reside in public repositories, but effective reuse remains challenging. Issues include unstructured dataset metadata,…”
Get full text

71 - Insulin (Ins2) Is Expressed in the Brain and Its Global Deletion Leads to Learning Deficits, Anxiety and Reduced Hippocampal Cyclin D1 Expression in Female Mice by Baehring, Stella, O’leary, Timothy, Alavi, Neeki, Holenka, Danae, Li, Hong, Mehran, Arya, Belmadani, Manuel, Pavalidis, Paul, Bamji, Shernaz, Johnson, James

Get full text

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort by Callaghan, Daniel Benjamin, Rogic, Sanja, Tan, Powell Patrick Cheng, Calli, Kristina, Qiao, Ying, Baldwin, Robert, Jacobson, Matthew, Belmadani, Manuel, Holmes, Nathan, Yu, Chang, Li, Yanchen, Li, Yingrui, Kurtzke, Franz‐Edward, Kuzeljevic, Boris, Yu, An Yi, Hudson, Melissa, Mcaughton, Amy J.M., Xu, Yuchen, Dionne‐Laporte, Alexandre, Girard, Simon, Liang, Ping, Separovic, Evica Rajcan, Liu, Xudong, Rouleau, Guy, Pavlidis, Paul, Lewis, M.E. Suzanne

“…Autism spectrum disorder (ASD) is a highly heterogeneous genetic disorder with strong evidence of ASD‐association currently available only for a small number…”
Get full text

Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb by Tan, Powell Patrick Cheng, Rogic, Sanja, Zoubarev, Anton, McDonald, Cameron, Lui, Frances, Charathsandran, Gayathiri, Jacobson, Matthew, Belmadani, Manuel, Leong, Justin, Van Rossum, Thea, Portales-Casamar, Elodie, Qiao, Ying, Calli, Kristina, Liu, Xudong, Hudson, Melissa, Rajcan-Separovic, Evica, Lewis, ME Suzanne, Pavlidis, Paul

“…ABSTRACT Identifying variants causal for complex genetic disorders is challenging. With the advent of whole‐exome and whole‐genome sequencing, computational…”
Get full text

Interactive exploration, analysis and visualization of complex phenomegenome datasets with ASPIREdb by Tan, Powell Patrick Cheng, Rogic, Sanja, Zoubarev, Anton, McDonald, Cameron, Lui, Frances, Charathsandran, Gayathiri, Jacobson, Matthew, Belmadani, Manuel, Leong, Justin, Van Rossum, Thea, Portales-Casamar, Elodie, Qiao, Ying, Calli, Kristina, Liu, Xudong, Hudson, Melissa, Rajcan-Separovic, Evica, Lewis, ME Suzanne, Pavlidis, Paul

“…Identifying variants causal for complex genetic disorders is challenging. With the advent of whole exome and genome sequencing, computational tools are needed…”
Get full text

MotifGP: Using multi-objective evolutionary computing for mining network expressions in DNA sequences by Belmadani, Manuel, Turcotte, Marcel

“…This paper describes and evaluates a multi-objective strongly typed genetic programming algorithm for the discovery of network expressions in DNA sequences…”
Get full text