Information resource :Rare Diseases by Julie Quetel

ClinicalTrials.gov
http://www.clinicaltrials.gov/
Department of Health and Human Services Healthfinder
http://www.healthfinder.gov/
Food and Drug Administration Center for Drug Evaluation and Research
http://www.fda.gov/cder/
Food and Drug Administration Office of Orphan Products Development
http://www.fda.gov/orphan/
National Center for Biotechnology Information: Introduction to Genes and Disease
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd
Genetics Home Reference
http://ghr.nlm.nih.gov/
Genetic and Rare Diseases Information Center
http://www.genome.gov/10000409
Medline Plus: Rare Diseases Pathfinder
http://www.nlm.nih.gov/medlineplus/rarediseases.html
National Institute of Arthritis and Musculoskeletal and Skin Diseases Patient Research Registries
http://www.niams.nih.gov/Funding/Funded_Research/registries.asp
National Institute of Arthritis and Musculoskeletal and Skin Diseases Coalition Members
http://www.niams.nih.gov/About_Us/Mission_and_Purpose/outside_org.asp
{National Institutes of Health Clinical Center}
http://www.cc.nih.gov/
National Institutes of Health National Cancer Institute
http://www.cancer.gov/
National Institutes of Health Office of Rare Diseases
http://rarediseases.info.nih.gov/
National Institutes of Health Office of Rare Diseases
http://rarediseases.info.nih.gov/
Rare Diseases Clinical Research Network
http://rarediseasesnetwork.epi.usf.edu/
National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov/
Canadian Directory of Genetic Support Groups
http://www.lhsc.on.ca/programs/medgenet/
Canadian Organization for Rare Disorders
http://www.cord.ca/
CenterWatch Clinical Trials Listing Service
http://www.centerwatch.com/
National Organization for Rare Disorders
http://www.rarediseases.org/
University of Kansas Medical Center: Genetic and Rare Conditions Site
http://www.kumc.edu/gec/support/
University of Kansas Medical Center: Genetics Education Center
http://www.kumc.edu/gec/
British Paediatric Surveillance Unit
http://bpsu.inopsu.com/
Contact a Family
http://www.cafamily.org.uk/
European Organisation for Rare Diseases
http://www.eurordis.org/
Genetic Alliance
http://www.geneticalliance.org/
Instituto de Investigatión de Enfermedades Raras
http://iier.isciii.es/er/
International Alliance of Patients' Organizations
http://www.patientsorganizations.org/
ORPHANET
http://www.orpha.net/
Socialstyrelsen
http://www.sos.se/smkh/indexe.htm
The European Rare Diseases Therapeutic Initiative
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1188253
NIH Launches Clinical Studies Nationwide to Investigate Rare Diseases
http://www.nih.gov/news/pr/may2006/ncrr-05.htm
Orphan Products: Hope for People With Rare Diseases
http://www.fda.gov/fdac/features/2003/603_orphan.html
President Bush Signs Rare Diseases Legislation
http://www.rarediseases.org/washington/bush_signs
{Prevalence of rare diseases: A bibliographic survey}
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases.pdf

Scitopia

Scitopia was collaboratively developed by a group of science and engineering societies as a federated search tool for their journal literature, as well as some patent resources.

HistCite is a new software package designed to help science professional

HistCite is a new software package designed to help science professionals make better use of the results of their searches of the Web of Science.

HistCite Features

HistCite has a wide array of features to help you analyze and visualize your bibliography.
Analytical Features

• Complete author list with papers published and citation ranks.
• Complete journal list with papers published and citation ranks.
• Complete list of countries of origin of papers published and citation ranks
• Complete list of institutions of origin of papers published and citation ranks
• Complete list of departments within institutions of origin of papers published and citation ranks.
• Compiled list of title words
• Compiled list of all cited references. This can be used to identify article important to the topic of your collection that were not picked up by your search.
• Analysis by year of publication
• Analysis by language of publication
• Analysis by document type (research article, review, letter, etc.)

Search, Filter, Tag and Export

• HistCite contains a search engine that allows you to search for records that meet your criteria.
• HistCite allows you to click on any title word, author or journal name to see a filtered list of records that contain that search term.
• You can save your subsets of records by adding custom-named tags to the records.
• Subsets of records can be exported from collections for further analysis.

Graphical

• The HistCite Graph Maker allows you to create historiographs  — graphical representations of  the historical development of a research field — of selected articles within your collection.

Editing
HistCite has several built in features to make editing your data collection easy.

• Edit multiple records simultaneously to unify spelling variations in authors, addresses, or cited records.
• Add records manually into your collection. This is useful if you want to add books or other document types that are not indexed in the Web of Science.
• Automatically search and download records from the Web of Science to add to the collection.

Output
HistCite outputs subsets of data in many different formats for analysis in other programs, for incorporation into publications and presentations, and for presentation on web sites.

• Excel-compatible comma-separated value files from all analytical tables.
• High-quality graphics from Graph Maker.
• Subsets of network data compatible with widely used network analysis programs such as Pajek or NetDraw.
• Complete or selected HTML presentations of your analysis suitable for presentation on a web site.

 http://www.histcite.com/

LingPipe 3.9.2

LingPipe is a suite of Java libraries

Feature Overview

LingPipe's information extraction and data mining tools:

• track mentions of entities (e.g. people or proteins);
• link entity mentions to database entries;
• uncover relations between entities and actions;
• classify text passages by language, character encoding, genre, topic, or sentiment;
• correct spelling with respect to a text collection;
• cluster documents by implicit topic and discover significant trends over time; and
• provide part-of-speech tagging and phrase chunking.

Architecture

LingPipe's architecture is designed to be efficient, scalable, reusable, and robust. Highlights include:

• Java API with source code and unit tests;
• multi-lingual, multi-domain, multi-genre models;
• training with new data for new tasks;
• n-best output with statistical confidence estimates;
• online training (learn-a-little, tag-a-little);
• thread-safe models and decoders for concurrent-read exclusive-write (CREW) synchronization; and
• character encoding-sensitive I/O.

Science Technology Internet resources:Patents

Patents:

The USPTO's PATFT searches and serves over 7,000,000 patents

http://patft.uspto.gov

Esp@cenet

http://ep.espacenet.com

The European Patent Office's (EPO) patent search engine

http://patft.uspto.gov/ 

SurfIP

http://www.surfip.gov.sg/

 

CIPO

http://patents.ic.gc.ca/

 

Patent Analysis

http://www.patentanalysis.com/

 

Google Patents

http://www.google.com/patents

 

Freepatentsonline

http://www.freepatentsonline.com/search.html

 

Patent Lens

http://www.patentlens.net/

 

WIPO Reformed IPC

http://www.wipo.int/classifications/ipc/ipc8/?lang=en