Difference between revisions of "Task 5: Researching SNPs"

From Bioinformatikpedia
(SNPdbe)
(HGMD)
Line 3: Line 3:
 
= HGMD =
 
= HGMD =
 
HGMD - Human Gene Mutation Database
 
HGMD - Human Gene Mutation Database
HGMD represents a collection of published mutations. In our case publications between 1993-2008 are covered.
+
HGMD represents a collection of published mutations. This means HGMD contains only mutations leading to a disease. In our case publications between 1993-2008 are covered.
 
The sequences and a list of all listed mutations can be found in the [[protocol-msud-task5 protocol]]
 
The sequences and a list of all listed mutations can be found in the [[protocol-msud-task5 protocol]]
 
<table border=1>
 
<table border=1>

Revision as of 16:45, 5 June 2012

In this task we are to research SNPs associated with our protein obda_human, in different databases.

HGMD

HGMD - Human Gene Mutation Database HGMD represents a collection of published mutations. This means HGMD contains only mutations leading to a disease. In our case publications between 1993-2008 are covered. The sequences and a list of all listed mutations can be found in the protocol-msud-task5 protocol

HGMD - BCKDHA (non-profit)
Mutation typenumber of entries
Missense/nonsense36
small deletions3
small insertions1
Gross deletions2
complex rearrangements1

dbSNP

SNPdbe

As SNPdbe contains predicted and experimental SNPs, we first have to parse the output of the database search. The list of all mutations can be found in the Protocol-msud-task5 protocol Unfortunately we only found not validated SNPs.

SNPedia

OMIM

mutationmap