Transcript Slide 1 - the ITHANET + Project Page

Future of Ithanet Portal
Proposed further work that could be done on
Ithanetbase
1.
Add d-, db-, HPFH, and Hb variant mutations to
complete the mutation database
2.
Collect more genotype/phenotype data?
–
eg a library of HPLC chromatograms for variants
3.
Link sections of Ithanetbase using DNA sequence
4.
Add difficult cases - make interactive
5.
Add specific mutation data to protocols and link
Add d-, db-, HPFH, and Hb variant mutations
•
Literature search & compile simple lists
for:
1.
2.
3.
4.
•
20 d-thal mutations
25 db-thal + 6 egdb-thal
5 HPFH del + 20 non-del HPFH
800 Hb variants – base on Hb Var list
Add lists to portal - create new sections
Est. timescale: 1-3 6 months
4 12 months:
Collect more genotype/phenotype data?
• Carrier data: Not much more to collect
• Only 40 Mediterranean/common mutations to date.
• Could provide more ORH data
– another 30 mutations
• Data still very incomplete
• Homozygote data: great idea - none submitted
• Too difficult and would be very incomplete?
• Perhaps link to difficult cases section
Collect new genotype/phenotype data?
• Collect BioRad HPLC pictures for known variants
• Start a library of pictures – scan in and link to variant
database
• ORH has pictures for 165 variants
• Other contributions from Greece, Cyprus, Holland?
• Ithanet continuation project – sponsorship?
• Add variant IEF position data
• ORH has data for 165 variants
• publish paper of IEF+RT for presumptive diagnosis
Interactive Ithanetbase
• Interactive globin gene sequences
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•
•
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Post sequence of each gene
Make each base interactive (using NCBI ref no?)
Link each nucleotide position to mutation database
Link to SNP database
Link to new Variant database
Link to new difficult cases database
• Redesign query page/interface
• Add specific mutation data to protocols and link
•
eg ARMS primer sequences