Facilitates the Annotation and Interpretation of Protein-Coding Variants
Abstract: The integration of genomic data with publicly available annotations and existing knowledge is a key component for understanding the potential functional effects of variants, but is often an involved and manual process. A more efficient means of identifying prior studies and existing knowledge about the functional impact of protein-coding variants discovered during genomic analysis is necessary. We present P2T2 for the annotation of proteins using extensive and diverse resources including phenotype-associated variants and literature-mined variant-phenotype relationships along with structural bioinformatics features such as linear motifs, domains, and experimental structures. Further, we generated annotated multiple sequence alignments to associate information between the analogous residues of closely related proteins. We believe this tool will be of great value to both basic science and clinical genomics applications for the interpretation of variants.
P2T2 is a web-based platform for:
- Annotation of proteins using extensive and diverse resources of:
- Population frequencies of variants
- Experimentally-determined functional variants
- Literature-mined variant-phenotype relationships
- Linear motifs and domains
- Experimentally-determined 3D structures
- Facilitating transfer of this information between closely related proteins via multiple sequence alignment
- Aids in determining functional effects of each site’s alteration
- Aids in hypothesis generation for functional effect
Please cite P2T2 as: Zimmermann et al. “P2T2: Protein Panoramic annoTation Tool.” manuscript submitted.
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Page last modified: July 23, 2018