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Future of Ithanet Portal

Future of Ithanet Portal. Proposed further work that could be done on Ithanetbase Add d -, db -, HPFH, and Hb variant mutations to complete the mutation database Collect more genotype/phenotype data? eg a library of HPLC chromatograms for variants

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Future of Ithanet Portal

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  1. Future of Ithanet Portal Proposed further work that could be done on Ithanetbase Add d-, db-, HPFH, and Hb variant mutations to complete the mutation database Collect more genotype/phenotype data? eg a library of HPLC chromatograms for variants Link sections of Ithanetbase using DNA sequence Add difficult cases - make interactive Add specific mutation data to protocols and link

  2. Add d-, db-, HPFH, and Hb variant mutations • Literature search & compile simple lists for: • 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:

  3. 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

  4. 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

  5. Interactive Ithanetbase • Interactive globin gene sequences • 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

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