Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
Endocrine and cellular physiology and pathology of the insulin-like growth factor acid-labile subunit
RC Baxter - Nature Reviews Endocrinology, 2024 - nature.com
The acid-labile subunit (ALS) of the insulin-like growth factor (IGF) binding protein (IGFBP)
complex, encoded in humans by IGFALS, has a vital role in regulating the endocrine …
complex, encoded in humans by IGFALS, has a vital role in regulating the endocrine …
Machine learning prediction and tau-based screening identifies potential Alzheimer's disease genes relevant to immunity
With increased research funding for Alzheimer's disease (AD) and related disorders across
the globe, large amounts of data are being generated. Several studies employed machine …
the globe, large amounts of data are being generated. Several studies employed machine …
Evolutionary action of mutations reveals antimicrobial resistance genes in Escherichia coli
Since antibiotic development lags, we search for potential drug targets through directed
evolution experiments. A challenge is that many resistance genes hide in a noisy mutational …
evolution experiments. A challenge is that many resistance genes hide in a noisy mutational …
Functional variants identify sex-specific genes and pathways in Alzheimer's Disease
The incidence of Alzheimer's Disease in females is almost double that of males. To search
for sex-specific gene associations, we build a machine learning approach focused on …
for sex-specific gene associations, we build a machine learning approach focused on …
Identification of risk genes for Alzheimer's disease by gene embedding
Y Lagisetty, T Bourquard, I Al-Ramahi, CG Mangleburg… - Cell genomics, 2022 - cell.com
Most disease-gene association methods do not account for gene-gene interactions, even
though these play a crucial role in complex, polygenic diseases like Alzheimer's disease …
though these play a crucial role in complex, polygenic diseases like Alzheimer's disease …
Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson's disease genes
J Li, BK Amoh, E McCormick, A Tarkunde… - Human Molecular …, 2023 - academic.oup.com
Genome-wide association studies (GWAS) have markedly advanced our understanding of
the genetics of Parkinson's disease (PD), but they currently do not account for the full …
the genetics of Parkinson's disease (PD), but they currently do not account for the full …
A general calculus of fitness landscapes finds genes under selection in cancers
Genetic variants drive the evolution of traits and diseases. We previously modeled these
variants as small displacements in fitness landscapes and estimated their functional impact …
variants as small displacements in fitness landscapes and estimated their functional impact …
EPIMUTESTR: a nearest neighbor machine learning approach to predict cancer driver genes from the evolutionary action of coding variants
Discovering rare cancer driver genes is difficult because their mutational frequency is too
low for statistical detection by computational methods. EPIMUTESTR is an integrative …
low for statistical detection by computational methods. EPIMUTESTR is an integrative …
[HTML][HTML] Identification of blood-based transcriptomics biomarkers for Alzheimer's disease using statistical and machine learning classifier
Alzheimer's disease (AD) is a neurodegenerative disorder that can be characterised by the
gradual progression of memory loss, impairment of cognitive function, and progressive …
gradual progression of memory loss, impairment of cognitive function, and progressive …