Perspective of artificial intelligence in healthcare data management: A journey towards precision medicine
Mounting evidence has highlighted the implementation of big data handling and
management in the healthcare industry to improve the clinical services. Various private and …
management in the healthcare industry to improve the clinical services. Various private and …
Transcriptional regulatory elements in the human genome
GA Maston, SK Evans, MR Green - Annu. Rev. Genomics Hum …, 2006 - annualreviews.org
The faithful execution of biological processes requires a precise and carefully orchestrated
set of steps that depend on the proper spatial and temporal expression of genes. Here we …
set of steps that depend on the proper spatial and temporal expression of genes. Here we …
Predicting the functional impact of protein mutations: application to cancer genomics
As large-scale re-sequencing of genomes reveals many protein mutations, especially in
human cancer tissues, prediction of their likely functional impact becomes important …
human cancer tissues, prediction of their likely functional impact becomes important …
PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
We present here a full update of the PMut predictor, active since 2005 and with a large
acceptance in the field of predicting Mendelian pathological mutations. PMut internal engine …
acceptance in the field of predicting Mendelian pathological mutations. PMut internal engine …
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
B Li, SM Leal - The American Journal of Human Genetics, 2008 - cell.com
Although whole-genome association studies using tagSNPs are a powerful approach for
detecting common variants, they are underpowered for detecting associations with rare …
detecting common variants, they are underpowered for detecting associations with rare …
Automated inference of molecular mechanisms of disease from amino acid substitutions
Motivation: Advances in high-throughput genotyping and next generation sequencing have
generated a vast amount of human genetic variation data. Single nucleotide substitutions …
generated a vast amount of human genetic variation data. Single nucleotide substitutions …
Performance of mutation pathogenicity prediction methods on missense variants
J Thusberg, A Olatubosun, M Vihinen - Human mutation, 2011 - Wiley Online Library
Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in
humans. The number of SNPs identified in the human genome is growing rapidly, but …
humans. The number of SNPs identified in the human genome is growing rapidly, but …
A generic method for assignment of reliability scores applied to solvent accessibility predictions
Background Estimation of the reliability of specific real value predictions is nontrivial and the
efficacy of this is often questionable. It is important to know if you can trust a given prediction …
efficacy of this is often questionable. It is important to know if you can trust a given prediction …
Predicting the effects of amino acid substitutions on protein function
PC Ng, S Henikoff - Annu. Rev. Genomics Hum. Genet., 2006 - annualreviews.org
Nonsynonymous single nucleotide polymorphisms (nsSNPs) are coding variants that
introduce amino acid changes in their corresponding proteins. Because nsSNPs can affect …
introduce amino acid changes in their corresponding proteins. Because nsSNPs can affect …
Molecular mechanisms of disease-causing missense mutations
Genetic variations resulting in a change of amino acid sequence can have a dramatic effect
on stability, hydrogen bond network, conformational dynamics, activity and many other …
on stability, hydrogen bond network, conformational dynamics, activity and many other …