PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation

By Haiming Tang, Paul D. Thomas. Bioinform., 2016

329 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/973ed75beb6bfa783f3d70335857436e9a119f03

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Paul D. Thomas
2. Huaiyu Mi
3. Anushya Muruganujan
4. Haiming Tang
5. Raquel Dias
6. Ali Torkamani

In Molecular Biology

1. Paul D. Thomas
2. Anushya Muruganujan
3. Huaiyu Mi
4. Dustin Ebert
5. Tremayne Mushayahama
6. Laurent-Philippe Albou
7. Xiaosong Huang
8. Caitlin Mills

Citations in the corpus

• Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation (2016, methodology): “The Ancestral Site Preservation algorithm (Marini et al. 2010; Tang and Thomas 2016) uses a multiple alignment in a way that is completely different from other methods.”
• PANTHER: Making genome‐scale phylogenetics accessible to all (2021, methodology): “The first is the PANTHER-PSEP (position-specific evolutionary preservation) tool, 50 which is commonly used to predict the likely effect of an amino-acid substitution ( “ coding variant ” ) on protein function.”
• PANTHER version 11: expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements (2016, methodology): “…coding single-nucleotide polymorphism (SNP) scoring tool , also available on the web as well as for download, uses the family multiple sequence alignments and phylogenetic trees in PANTHER to identify whether a user-uploaded protein amino acid substitution will likely impact protein function (5–7).”