Case Studies In Genetics

National Library Of Medicine

Investigators

Linked publications & trials

Abstract

During my career I have worked on several projects creating software (FASTLINK, CASPAR, rh_tsp_map,[unreadable] PedHunter, etc.) and a database (Anabaptist Genealogy database) for genetic studies.[unreadable] My association with this software and a past track record of effective collaboration[unreadable] with wet lab scientists leads to more and more such collaborations.[unreadable] Two highlights from the past year are:[unreadable] -- publication in late 2007 in the New England Journal of Medicine that heterozygous[unreadable] mutations in STAT3 cause hyper-IgE syndrome[unreadable] -- the completion of a dense genome-wide radiation hybrid map of the horse;[unreadable] the map is already available in NCBI's MapViewer and will be formally[unreadable] published soon in Volume 122, issue 1 of Cytogenetic and Genome Research.[unreadable] [unreadable] The immunology gene hunting work was done in collaboration with Steven Holland[unreadable] (NIAID/NIH), Bodo Grimbacher (University College London), and Jennifer[unreadable] PucK (UC San Francisco).[unreadable] [unreadable] The horse map work was done in collaboration with Richa Agarwala (NCBI/NIH),[unreadable] Edward Rice (former student at NCBI/NIH), Terje Raudsepp (Texas A&M) and[unreadable] Bhanu Chowdhary (Texas A&M).