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 …
Interpreting protein variant effects with computational predictors and deep mutational scanning
BJ Livesey, JA Marsh - Disease Models & Mechanisms, 2022 - journals.biologists.com
Computational predictors of genetic variant effect have advanced rapidly in recent years.
These programs provide clinical and research laboratories with a rapid and scalable method …
These programs provide clinical and research laboratories with a rapid and scalable method …
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 …
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is …
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is …
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
Context: The interpretation of novel missense variants is a challenge with increasing
numbers of such variants being identified and a responsibility to report the findings in the …
numbers of such variants being identified and a responsibility to report the findings in the …
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
AE Shearer, AP DeLuca… - Proceedings of the …, 2010 - National Acad Sciences
The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic
diagnosis expensive and time consuming using available methods. To assess the feasibility …
diagnosis expensive and time consuming using available methods. To assess the feasibility …
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
Multiple algorithms are used to predict the impact of missense mutations on protein structure
and function using algorithm‐generated sequence alignments or manually curated …
and function using algorithm‐generated sequence alignments or manually curated …
Classification of rare missense substitutions, using risk surfaces, with genetic‐and molecular‐epidemiology applications
SV Tavtigian, GB Byrnes, DE Goldgar… - Human …, 2008 - Wiley Online Library
Many individually rare missense substitutions are encountered during deep resequencing of
candidate susceptibility genes and clinical mutation screening of known susceptibility …
candidate susceptibility genes and clinical mutation screening of known susceptibility …
An extended set of yeast-based functional assays accurately identifies human disease mutations
We can now routinely identify coding variants within individual human genomes. A pressing
challenge is to determine which variants disrupt the function of disease-associated genes …
challenge is to determine which variants disrupt the function of disease-associated genes …
Assessing the pathogenicity of insertion and deletion variants with the variant effect scoring tool (VEST‐Indel)
C Douville, DL Masica, PD Stenson… - Human …, 2016 - Wiley Online Library
Insertion/deletion variants (indels) alter protein sequence and length, yet are highly
prevalent in healthy populations, presenting a challenge to bioinformatics classifiers …
prevalent in healthy populations, presenting a challenge to bioinformatics classifiers …