University of Geneva

Human Chromosome 21 cSNP
Database and MAP

Swiss Institute of
Bioinformatics

A joint project between the Division of Medical
Genetics
of the University of Geneva Medical School
and
the Swiss Institute of Bioinformatics


Chromosome 21 is the smallest human chromosome, the long arm of which comprises 34 MB of DNA sequence. The completion of its nucleotide sequence revealed 225 genes. It is associated with a number of human pathologies such as Down syndrome, as well as several monogenic and complex genetic disorders.

Here we present a comprehensive cSNP (Single Nucleotide Polymorphisms within cDNA sequences) database and map which was generated using a combination of bioinformatics and experimental approaches (see methods), using the complete DNA sequence and the large amount of ESTs present in the public databases.

The cSNPs will undoubtedly become important tools in genetic epidemiology studies for the dissection of complex disorders.


Gene table
Map
BLAST search
Text search
Methods
 

cSNP queries:
mailto:Samuel.Deutsch@medicine.unige.ch

 

Database queries:
mailto:Philipp.Bucher@isrec.unil.ch