Diagnostics/Research


In addition to the information made available on VWFdb, the following resources may also be of use to VWD investigators working in both diagnostics and research laboratories. Please note: the VWF database manager cannot guarantee the accuracy of the information provided by these external resources.

Additional background information on VWD GeneReviewsä summary on VWD (Goodeve & James)

Specific Online Mendelian Inheritance in Man (OMIM) entries for type 1, type 2, type 3 and platelet type VWD
Annotated VWF DNA and VWF amino acid sequences Ensembl genome browser information on VWF
Additional information on VWF variants Hemobase VWD database

Human Gene Mutation Database (HGMD)
Please note: site requires a personal login (free access or subscription available)

dbSNP entries specific to the VWF locus
Laboratories currently offering VWD clinical testing services GeneTestsä information on VWD

Sheffield Diagnostic Genetics Service
Amino acid conservation analysis tools Align-Grantham Variation Grantham Deviation (A-GVGD) (Tavtigian et al., 2006)

Polymorphism Phenotyping v2 (PolyPhen-2) (Adzhubei et al., 2010)

Sorting Intolerant From Tolerant (SIFT) (Ng et al., 2001)
Splice site prediction tools GeneSplicer (Pertea et al., 2001)

Human Splicing Finder (Desmet et al., 2009)

MaxEntScan (Yeo & Burge, 2004)

NetGene2 (Brunak et al., 1991)

NNSplice (Reese et al., 1997)
Miscellaneous resources CoagBase
Provides gene/protein information and legacy-Human Genome Variation Society (HGVS) nomenclature conversion

EuroGenTest
Provides best practice guidelines covering several topics including DNA sequencing, interpretation of genetic variants, validation/verification of clinical molecular genetic tests and VWD

The Human Genome Organisation (HUGO) Gene Nomenclature Committee (HGNC)
Provides HGNC-approved nomenclature and associated resources

National Genetics Reference Laboratory (NGRL)
Provides spreadsheets designed to assist analysis of multiplex ligation-dependent probe amplification (MLPA) data and the SNPCheck tool designed to screen primer annealing sites for SNPs

National Institute for Biological Standards and Control (NIBSC)
Provides plasma and DNA standards

This page is maintained by Dan Hampshire
Department of Cardiovascular Science, University of Sheffield