ВНИМАНИЕ: Специалистам - BioNOT и ALFRED - Бесплатные базы данных по научным исследованиям в области Редких Заболеваний
Other free access data resources mentioned recently in the scientific literature Other recently-mentioned open access resources that can help further understanding of rare diseases include BioNOT, a searchable database of biomedical negated sentences. Working from the premise that negated biomedical events can be scientifically significant, BioNOT is a database of some 32 million negated sentences that can serve to extract negated events. Using “Rett” as the search term, the BioNOT database provided some 100 text extracts featuring a negated sentence, such as: “In the 10 mentally retarded patients with Rett-like features, however, no mutation was detected in the coding region of MECP2” or “Having Rett syndrome in the ICD-10 PDD category does not make sense” and provides an electronic link to the source of the literature. BioNOT thus allows the user to capture negated events that might be neglected by experts. Visit BioNOT
Then there is ALFRED. As an open-access article in the journal Nucleic Acids Research recently described, Yale University-based Alfred is a freely available curated compilation of allele frequency data on DNA sequence polymorphisms in anthropologically defined human populations. Alfred is not a compendium of human DNA polymorphisms, but rather of frequencies of selected polymorphisms with an emphasis on those that have been studied in multiple populations. The data in ALFRED are considered to be in the public domain and available for use in research and teaching. Alfred has allele frequency tables on over 663 400 polymorphic sites to date. Of these, 170 have frequency tables for over 100 different population samples. Records have active links to relevant resources (dbSNP, PharmGKB, OMIM, Ethnologue, etc.). Alfred features flexible search options, data display, and download capabilities, thus allowing easy access to the data. Learn more about Alfred.
These, along with previously featured projects, such as the Gen2Phen sponsored resources (learn more) are amongst a growing number of free-access sources that are facilitating rare disease knowledge and accelerating the translation from basic to clinical application.