EnsembleSplice: ensemble deep learning model for splice site prediction

V Akpokiro, T Martin, O Oluwadare - BMC bioinformatics, 2022 - Springer
Background Identifying splice site regions is an important step in the genomic DNA
sequencing pipelines of biomedical and pharmaceutical research. Within this research …

Analytical Pipelines for the GBS Analysis

V Rachappanavar, A Padiyal… - … by Sequencing for …, 2022 - Wiley Online Library
Technological advances in sequencing led to the development of next‐generation
sequencing (NGS) platforms. Over the period different sequencing platforms are developed …

The detection of high-qualified indels in exomes and their effect on cognition

N Younis - 2022 - papyrus.bib.umontreal.ca
Genetic insertions/deletions (indels) have been linked to many neurodevelopmental
disorders (NDDs) such as autism spectrum disorder (ASD) and intellectual disability (ID) …