GPRASP1 loss-of-function links to arteriovenous malformations by endothelial activating GPR4 signals
R Li, X Xiao, Y Yan, L Yu, C Lv, Y Zhang, T Hong… - Brain, 2024 - academic.oup.com
Arteriovenous malformations (AVMs) are fast-flow vascular malformations and refer to
important causes of intracerebral haemorrhage in young adults. Getting deep insight into the …
important causes of intracerebral haemorrhage in young adults. Getting deep insight into the …
Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors
YJ Lin, AS Menon, Z Hu, SE Brenner - Human Genomics, 2024 - Springer
Background Variant interpretation is essential for identifying patients' disease-causing
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …
PHACTboost: a phylogeny-aware pathogenicity predictor for missense mutations via boosting
Most algorithms that are used to predict the effects of variants rely on evolutionary
conservation. However, a majority of such techniques compute evolutionary conservation by …
conservation. However, a majority of such techniques compute evolutionary conservation by …
Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations
Despite advancements in understanding the structure and functions of the Calcium Sensing
Receptor (CaSR), gaps persist in our knowledge of the specific functions of its residues. In …
Receptor (CaSR), gaps persist in our knowledge of the specific functions of its residues. In …
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
This paper presents an evaluation of predictions submitted for the" HMBS" challenge, a
component of the sixth round of the Critical Assessment of Genome Interpretation held in …
component of the sixth round of the Critical Assessment of Genome Interpretation held in …
Evolutionary History of Calcium-Sensing Receptors Unveils Hyper/Hypocalcemia-Causing Mutations
Abstract The Calcium Sensing Receptor (CaSR) is very important in controlling the levels of
calcium in the body by interacting with different types of G-protein. This receptor is highly …
calcium in the body by interacting with different types of G-protein. This receptor is highly …
Uncovering the Dual Role of Mitochondrial and Nuclear DNA Variants in Pediatric Cardiomyopathies
The diagnosis, categorization, and management of isolated non-syndromic pediatric
cardiomyopathies now heavily depend on genetic research. Defects in the myocardium may …
cardiomyopathies now heavily depend on genetic research. Defects in the myocardium may …
PHACTboost: A Phylogeny-aware Boosting Algorithm to Compute the Pathogenicity of Missense Mutations
Most algorithms that are used to predict the effects of variants rely on evolutionary
conservation. However, a majority of such techniques compute evolutionary conservation by …
conservation. However, a majority of such techniques compute evolutionary conservation by …
[PDF][PDF] In-Depth In-Silico Functional, And Structural Screening Of IL-4 Gene Variants Linked with Pink Eye Infection
H Tariq, A Amir, M Saleem, K Ramzan, T Aslam… - Int. J. Sci. R …, 2024 - ijsrtjournal.com
Conjunctival inflammation affects millions globally and can be triggered by microbial
infections, allergens, or genetic factors. This study focuses on specific SNPs in the IL-4 gene …
infections, allergens, or genetic factors. This study focuses on specific SNPs in the IL-4 gene …
Reproducible and scalable data analysis on high performance computing
We recently presented the PHACT tool (PHylogeny-Aware Computation of Tolerance) for
assessing amino acid substitutions that achieved superior predictive performance compared …
assessing amino acid substitutions that achieved superior predictive performance compared …