Seshat: A Web service for accurate annotation, validation, and analysis of TP53 variants generated by conventional and next-generation sequencing
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
R01 CA181308
NCI NIH HHS - United States
PubMed
29696732
DOI
10.1002/humu.23543
Knihovny.cz E-zdroje
- Klíčová slova
- HGVS variant nomenclature, TP53 variants, database, variant annotation,
- MeSH
- anotace sekvence MeSH
- databáze genetické * MeSH
- genetická variace genetika MeSH
- genomika trendy MeSH
- internet MeSH
- lidé MeSH
- mutace MeSH
- nádorový supresorový protein p53 genetika MeSH
- software * MeSH
- výpočetní biologie trendy MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- nádorový supresorový protein p53 MeSH
- TP53 protein, human MeSH Prohlížeč
Accurate annotation of genomic variants in human diseases is essential to allow personalized medicine. Assessment of somatic and germline TP53 alterations has now reached the clinic and is required in several circumstances such as the identification of the most effective cancer therapy for patients with chronic lymphocytic leukemia (CLL). Here, we present Seshat, a Web service for annotating TP53 information derived from sequencing data. A flexible framework allows the use of standard file formats such as Mutation Annotation Format (MAF) or Variant Call Format (VCF), as well as common TXT files. Seshat performs accurate variant annotations using the Human Genome Variation Society (HGVS) nomenclature and the stable TP53 genomic reference provided by the Locus Reference Genomic (LRG). In addition, using the 2017 release of the UMD_TP53 database, Seshat provides multiple statistical information for each TP53 variant including database frequency, functional activity, or pathogenicity. The information is delivered in standardized output tables that minimize errors and facilitate comparison of mutational data across studies. Seshat is a beneficial tool to interpret the ever-growing TP53 sequencing data generated by multiple sequencing platforms and it is freely available via the TP53 Website, http://p53.fr or directly at http://vps338341.ovh.net/.
Central European Institute of Technology Masaryk University Brno Czech Republic
Department of Oncology Pathology Cancer Center Karolinska Karolinska Institutet Stockholm Sweden
Department of Pathology University of Washington Seattle Washington
Genevia Technologies Tampere Finland
INSERM Centre de Recherche des Cordeliers U1138 Paris France
Citace poskytuje Crossref.org
ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update
