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2014 Annual Minutes
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6/19/2014 at 6:59:54 PM GMT
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2014 Annual Minutes
Working Group on Genomics in Hemostasis
 
Chairmen: Anne Goodeve (UK, excused), Willem H Ouwehand (UK), Pieter Reitsma (the Netherlands)
 
Monday, 23 June (14:15-18:15)
 
Session 1 – Chair – Willem H Ouwehand, Cambridge, UK
Professor Willem H Ouwehand opened the session thanking all the people attending the ThromboGenomics Working Group on Genomics.  
 
Speaker: Professor Kathleen Freson – Belgium
Title: Human Phenotype Ontology Terms: Does it works?
The underlying principles and the use of Human Phenotype Ontology (HPO) terms for phenotype clustering in patients with bleeding and platelet disorders was outlined. A key difference between HPO and other bleeding phenotype ontologies is the ability to also code pathobiologies outside the narrow remit of bleeding and platelet disorders. It is hoped that this will provide additional power in gene discovery programmes.  
 
Speaker: Dr Anne Kelly – UK
Title: Application of HPO to bleeding and platelet disorders
The HPO coding allows standardised recording of detailed clinical phenotype. A logic clustering code was developed and applied to 716 HPO-coded cases with bleeding and platelet disorders. Some preliminary evidence was presented that the automated clustering of cases may facilitate gene discovery  
 
Speaker: Dr Daniel Hampshire – UK
Title: The coagulation factor variant database
An update on the combined European CoagDB portal to provide access to variant databases for all coagulation factors. There has been excellent progress with the F8 database and it is hoped that efforts on F7 and F11 will be completed by Dec 2014          
 
Speaker: Dr Daniel Bellissimo – USA
Title: The role of the curator for the ThromboGenomics database
One of the aims of the ThromboGenomics project is to develop a sustainable and high quality curated database of gene annotations including clinically relevant DNA sequence variants for rare inherited bleeding and platelet disorders (BPD). The importance of a stable reference sequence, of gene annotation at Locus Reference Genomic (LRG), and the curator’s responsibilities of the interpretation of sequence variants have been discussed.  Integration of BPD gene sequence variants with these of other control databases (1000 Genomes, NHLBI-ESP, UK10K, GEL100K, etc.) is seen as a critical development in cleaning up historical erroneous data entries.  
 
Session 2 - Chair: Pieter Reitsma, Leiden, the Netherlands  
 
Speaker: Dr Ji Wu – USA
Title: Discover with Confidence: NimbleGen Target Enrichment Technology for next generation sequencing
The NimbleGen target enrichment protocol and design, in use for the ThromboGenomics samples, have been presented.  
 
Speaker: Dr Ilenia Simeoni – UK
Title: A NGS Diagnostic Platform for inherited bleeding and platelet disorders
An update on the three main activities of the ThromboGenomics project: 1) Development of a next generation sequencing (NGS) platform 2) gene curation and 3) database development for stable references of sequence variations were presented.  Good progress has been made on all three activities and it is expected that the validation of the NGS platform will have been completed by June 2015.  
 
Speaker: Professor Willem H Ouwehand in substitution of Dr Augusto Rendon – UK
Title: Genomic medicine in the care path of patients with bleeding and platelet disorders
Discussed the advances of genomic medicine to discover new genes and new variants to elucidate the mechanism of unresolved bleeding and platelet disorders.Whole genome sequencing is now available at low cost and provides better coverage than whole exome sequencing in the coding ("exome”) space. The importance of data sharing has also been highlighted  
 
Speaker: Dr Jill Johnsen – USA
Title: NGS approaches in familial ITP
Results of a whole exome sequencing study on two pedigrees with familial ITP were presented. No conclusive results could be drawn and further cases will require analysis to identify the genetic architecture of this rare disorder.                    
 
Speaker: Dr Pieter Reitsma – The Netherlands
Title: Resequencing of 100 cases with Familial Thrombophilia
Results of the targeted resequencing of 100 cases with familial thrombophilia were presented.
 
Final Remarks  
 
Progress
The ThromboGenomics (TG) project is now in the final stage of the validation of the next generation sequencing platform. Significant improvements have been achieved for the establishment of a stable database where sequence variations can be stored. The global TG network continues to expand including new collaborators, curators, clinicians and researchers from all around the world. Similarly exciting advances have been made with the European CoagDB portal and as both databases are "open access” there seems to be a great opportunity to fuse the knowledge of these two databases.  It was generally accepted that the largest challenge was the accurate curation of variant databases.  
 
New chairman
Willem H Ouwehand mentioned at the opening and closing of the meeting that the Genomics Working Group requires at least one new Chairman.  One of the two founder Chairman of ThromboGenomics Dr Thomas Kunicki (USA) has stood down from his post because of retirement.  It was emphasised that since the other three Chairs are from Europe that it was essential to have representation from other continents.  Members and attendees of ISTH with an interest to be appointed to one of the two vacant posts were invited to submit their CV before Friday 11th July by email to Dr Ilenia Simeoni at is250@cam.ac.uk or Prof Willem H Ouwehand at who1000@cam.ac.uk.   
 
Transition to SSC Subcommittee
Willem H Ouwehand attended the ISTH SSC meeting and was informed that ThromboGenomics could apply for SSC subcommittee status.   A relatively "light” application process is to be followed to achieve this possible transition.  
 
Dr Ilenia Simeoni PhD
Scientific Coordinator ThromboGenomics
Cambridge Translational Genomics Laboratory
Cambridge, UK
July 2014.  


Last edited Thursday, September 25, 2014
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