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» Clinical Synopsis Search in OMIM
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BMCBI
2011
13 years 1 months ago
Clinical Synopsis Search in OMIM
Background: The OMIM database is a tool used daily by geneticists. Syndrome pages include a Clinical Synopsis section containing a list of known phenotypes comprising a clinical s...
Raphael Cohen, Avitan Gefen, Michael Elhadad, Ohad...
BMCBI
2005
134views more  BMCBI 2005»
13 years 6 months ago
Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists
Background: Analysis of inherited diseases and their associated phenotypes is of great importance to gain knowledge of underlying genetic interactions and could ultimately give cl...
Marco Masseroli, Osvaldo Galati, Mauro Manzotti, K...
BMCBI
2008
151views more  BMCBI 2008»
13 years 6 months ago
An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases
Background: Studies on the relationship between disease and genetic variations such as single nucleotide polymorphisms (SNPs) are important. Genetic variations can cause disease b...
Jin Ok Yang, Sohyun Hwang, Jeongsu Oh, Jong Bhak, ...