User profiles for M. Belmadani
Manuel BelmadaniBioinformatician, University of British Columbia Verified email at ubc.ca Cited by 419 |
A comprehensive analysis of 3′ end sequencing data sets reveals novel polyadenylation signals and the repressive role of heterogeneous ribonucleoprotein C on …
Alternative polyadenylation (APA) is a general mechanism of transcript diversification in
mammals, which has been recently linked to proliferative states and cancer. Different 3′ …
mammals, which has been recently linked to proliferative states and cancer. Different 3′ …
VariCarta: A comprehensive database of harmonized genomic variants found in autism spectrum disorder sequencing studies
M Belmadani, M Jacobson, N Holmes, M Phan… - Autism …, 2019 - Wiley Online Library
Recent years have seen a boom in the application of the next‐generation sequencing technology
to the study of human disorders, including Autism Spectrum Disorder (ASD), where the …
to the study of human disorders, including Autism Spectrum Disorder (ASD), where the …
[HTML][HTML] Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction
Functional variomics provides the foundation for personalized medicine by linking genetic
variation to disease expression, outcome and treatment, yet its utility is dependent on …
variation to disease expression, outcome and treatment, yet its utility is dependent on …
Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation
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 functional …
growing number of candidate risk genes and gene variants of unknown functional …
[HTML][HTML] Assessing transcriptome quality in patch-seq datasets
…, C Bomkamp, BO Mancarci, M Belmadani… - Frontiers in Molecular …, 2018 - frontiersin.org
Patch-seq, combining patch-clamp electrophysiology with single-cell RNA-sequencing (scRNAseq),
enables unprecedented access to a neuron's transcriptomic, electrophysiological, …
enables unprecedented access to a neuron's transcriptomic, electrophysiological, …
Curation of over 10 000 transcriptomic studies to enable data reuse
N Lim, S Tesar, M Belmadani, G Poirier-Morency… - Database, 2021 - academic.oup.com
Vast amounts of transcriptomic data reside in public repositories, but effective reuse remains
challenging. Issues include unstructured dataset metadata, inconsistent data processing …
challenging. Issues include unstructured dataset metadata, inconsistent data processing …
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
…, Y Qiao, R Baldwin, M Jacobson, M Belmadani… - Clinical …, 2019 - Wiley Online Library
Autism spectrum disorder (ASD) is a highly heterogeneous genetic disorder with strong
evidence of ASD‐association currently available only for a small number of genes. This makes it …
evidence of ASD‐association currently available only for a small number of genes. This makes it …
Big Five and Virtual Reality Marketing Adoption in Morocco: A Deep Learning Approach
…, EM Bourhim, MO Belmadani - 2023 14th International …, 2023 - ieeexplore.ieee.org
With the recent expansion of Head-mounted virtual reality (VR) screens for consumers, many
sectors of industry have begun to recognize the high potential of VR. However, there has …
sectors of industry have begun to recognize the high potential of VR. However, there has …
Interactive exploration, analysis, and visualization of complex phenome–genome datasets with ASPIREdb
…, M Jacobson, M Belmadani… - Human …, 2016 - Wiley Online Library
Identifying variants causal for complex genetic disorders is challenging. With the advent of
whole‐exome and whole‐genome sequencing, computational tools are needed to explore …
whole‐exome and whole‐genome sequencing, computational tools are needed to explore …
Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing
Voltage gated calcium channels (VGCCs) regulate the influx of calcium ions in many cell
types, but our lack of knowledge about the plethora of VGCC splice variants remains a gap in …
types, but our lack of knowledge about the plethora of VGCC splice variants remains a gap in …