TY - JOUR
TI - HbVar Database of Human Hemoglobin Variants and Thalassemia Mutations:
2007 Update
AU - Giardine, Belinda
AU - van Baal, Sjozef
AU - Kaimakis, Polynikis and
AU - Riemer, Cathy
AU - Miller, Webb
AU - Samara, Maria
AU - Kollia, Panagoula
AU - and Anagnou, Nicholas P.
AU - Chui, David H. K.
AU - Wajcman, Henri and
AU - Hardison, Ross C.
AU - Patrinos, George P.
JO - Human Mutation
PY - 2007
VL - 28
TODO - 2
SP - null
PB - Wiley-Blackwell
SN - 1059-7794, 1098-1004
TODO - 10.1002/humu.9479
TODO - LSDB; globin genes; thalassemia; variants; mutation screening; software
TODO - HbVar (http://globin.bx.psu.edu/hbvar) is a locus-specific database
(LSDB) developed in 2001 by a multi-center academic effort to provide
timely information on the genomic sequence changes leading to hemoglobin
variants and all types of thalassemia and hemoglobinopathies. Database
records include extensive phenotypic descriptions, biochemical and
hematological effects, associated pathology, and ethnic occurrence,
accompanied by mutation frequencies and references. In addition to the
regular updates to entries, we report significant advances and updates,
which can be useful not only for HbVar users but also for other LSDB
development and curation in general. The query page provides more
functionality but in a simpler, more user-friendly format and known
single nucleotide polymorphisms in the human alpha- and beta-globin loci
are provided automatically. Populationspecific beta-thalassemia mutation
frequencies for 31 population groups have been added and/or modified and
the previously reported delta- and alpha-thalassemia mutation frequency
data from 10 population groups have also been incorporated. In addition,
an independent flat-file database, named XPRbase
(http://www.goldenhelix.org/xprbase), has been developed and linked to
the main HbVar web page to provide a succinct listing of 51 experimental
protocols available for globin gene mutation screening. These updates
significantly augment the database profile and quality of information
provided, which should increase the already high impact of the HbVar
database, while its combination with the UCSC powerful genome browser
and the ITHANET web portal paves the way for drawing connections of
clinical importance, that is from genome to function to phenotype. (C)
2007 Wiley-Liss, Inc.
ER -