During my career I have worked on several projects creating software (FASTLINK, CASPAR, rh_tsp_map, PedHunter, etc.) and a database (Anabaptist Genealogy database) for genetic studies. My association with this software and a past track record of effective collaboration with wet lab scientists leads to more such collaborations. Three highlights from my publications of the past year are: -- characterization of the first human patients neutropenia due to biallelic germline mutations in CSF3R, the gene that encodes the receptor for the granulocute-colony stimulating factor receptor (G-CSFR), which was published in Blood;this is clinically important because recombinant human G-CSF (a.k.a. filgrastim, neupogen) is a standard treatment for neutropenia patients, but these patients with biallelic mutations in the receptor for G-CSF do not respond to this treatment -- characterization of the first human patients with an immunodeficiency syndrome due to biallelic mutations in PGM3;some, but not all of these patients have high IgE and meet diagnostic criteria for autosomal recessive hyperIgE syndrome;this finding is surprising because PGM3 encodes one enzyme in a glycosylation pathway. having no obvious connection with immunity or IgE;this finding was published in Journal of Allergy and Clinical Immunology -- completion of a new version of the genetics software PSEUDOMARKER in which the numerical optimization step is many times faster than before;this work was published in BMC Bioinformatics The work on CSF3R mutations was done in collaboration with the group of Christoph Klein (Munich, Germany). The work on PGM3 mutations was done in collaboration with the group of Bodo Grimbacher (Freiburg, Germany) The work on the new version of the PSEUDOMARKER software was done in collaboration with Tero Hikkalinna (Helsinki, Finland), Charles Audet and Sebastien LeDigabel (Montreal, Canada) and Joseph Terwilliger (New York).
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