A review of deep learning applications in human genomics using next-generation sequencing data
WS Alharbi, M Rashid - Human Genomics, 2022 - Springer
Genomics is advancing towards data-driven science. Through the advent of high-throughput
data generating technologies in human genomics, we are overwhelmed with the heap of …
data generating technologies in human genomics, we are overwhelmed with the heap of …
Decoding disease: from genomes to networks to phenotypes
AK Wong, RSG Sealfon, CL Theesfeld… - Nature Reviews …, 2021 - nature.com
Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …
disease and designing personalized therapeutic approaches. Modern experimental …
A framework for individualized splice-switching oligonucleotide therapy
Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of
individuals with genetic diseases, but the systematic identification of such individuals …
individuals with genetic diseases, but the systematic identification of such individuals …
The Kipoi repository accelerates community exchange and reuse of predictive models for genomics
12. Assisted Human Reproduction Act, SC 2004. http://laws-lois. justice. gc. ca/PDF/A-13.4.
pdf (2018) 13. CNN. Rael defends claims of cloned baby. http://www. cnn. com/2003 …
pdf (2018) 13. CNN. Rael defends claims of cloned baby. http://www. cnn. com/2003 …
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing
Predicting the effects of genetic variants on splicing is highly relevant for human genetics.
We describe the framework MMSplice (modular modeling of splicing) with which we built the …
We describe the framework MMSplice (modular modeling of splicing) with which we built the …
FUBP1 is a general splicing factor facilitating 3′ splice site recognition and splicing of long introns
S Ebersberger, C Hipp, MM Mulorz, A Buchbender… - Molecular cell, 2023 - cell.com
Splicing of pre-mRNAs critically contributes to gene regulation and proteome expansion in
eukaryotes, but our understanding of the recognition and pairing of splice sites during …
eukaryotes, but our understanding of the recognition and pairing of splice sites during …
Genome-wide detection of human variants that disrupt intronic branchpoints
Pre-messenger RNA splicing is initiated with the recognition of a single-nucleotide intronic
branchpoint (BP) within a BP motif by spliceosome elements. Forty-eight rare variants in 43 …
branchpoint (BP) within a BP motif by spliceosome elements. Forty-eight rare variants in 43 …
From computational models of the splicing code to regulatory mechanisms and therapeutic implications
C Capitanchik, OG Wilkins, N Wagner… - Nature Reviews …, 2024 - nature.com
Since the discovery of RNA splicing and its role in gene expression, researchers have
sought a set of rules, an algorithm or a computational model that could predict the splice …
sought a set of rules, an algorithm or a computational model that could predict the splice …
Harnessing the potential of machine learning and artificial intelligence for dementia research
Progress in dementia research has been limited, with substantial gaps in our knowledge of
targets for prevention, mechanisms for disease progression, and disease-modifying …
targets for prevention, mechanisms for disease progression, and disease-modifying …
Deciphering regulatory DNA sequences and noncoding genetic variants using neural network models of massively parallel reporter assays
The relationship between noncoding DNA sequence and gene expression is not well-
understood. Massively parallel reporter assays (MPRAs), which quantify the regulatory …
understood. Massively parallel reporter assays (MPRAs), which quantify the regulatory …