| Name : R-VarfromPDB
| |
| Version : 2.2.10
| Vendor : obs://build_opensuse_org/devel:languages:R
|
| Release : lp153.7.7
| Date : 2024-06-14 11:48:54
|
| Group : Development/Libraries/Other
| Source RPM : R-VarfromPDB-2.2.10-lp153.7.7.src.rpm
|
| Size : 0.20 MB
| |
| Packager : (none)
| |
| Summary : Disease-Gene-Variant Relations Mining from the Public Databases and Literature
|
Description :
Captures and compiles the genes and variants related to a disease, a
phenotype or a clinical feature from the public databases including HPO
(Human Phenotype Ontology,
< http://human-phenotype-ontology.github.io/about.html>), Orphanet
< http://www.orpha.net/consor/cgi-bin/index.php>, OMIM (Online Mendelian
Inheritance in Man, < http://www.omim.org>), ClinVar
< http://www.ncbi.nlm.nih.gov/clinvar>, and UniProt (Universal Protein
Resource, < http://www.uniprot.org>) and PubMed abstracts. HPO provides
a standardized vocabulary of phenotypic abnormalities encountered in
human disease. HPO currently contains approximately 11,000 terms and
over 115,000 annotations to hereditary diseases. Orphanet is the
reference portal for information on rare diseases and orphan drugs,
whose aim is to help improve the diagnosis, care and treatment of
patients with rare diseases. OMIM is a continuously updated catalog of
human genes and genetic disorders and traits, with particular focus on
the molecular relationship between genetic variation and phenotypic
expression. ClinVar is a freely accessible, public archive of reports
of the relationships among human variations and phenotypes, with
supporting evidence. UniProt focuses on amino acid altering variants
imported from Ensembl Variation databases. For Homo sapiens, the
variants including human polymorphisms and disease mutations in the
UniProt are manually curated from UniProtKB/Swiss-Prot. Additionally,
PubMed provides the primary and latest source of the information. Text
mining was employed to capture the information from PubMed abstracts.
|
RPM found in directory: /packages/linux-pbone/ftp5.gwdg.de/pub/opensuse/repositories/devel:/languages:/R:/autoCRAN/openSUSE_Leap_15.3/x86_64 |
