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 a previously unrecognized form of severe congenital neutropenia (SCN), due to mutations in JAGN1. This is a clinically important example of precision medicine because recombinant human G-CSF (a.k.a. filgrastim, neupogen) is a standard treatment for neutropenia patients, but these patients with biallelic mutations in JAGN1 do not respond to this treatment. This finding was published in Nature Genetics. -- molecular characterization of the first hereditary form of susceptibility to carcinoid tumors, due to a mutation in IPMK. This is clinically important because it provides the strongest proof to date that carcinoid tumors can be familial and therefore first-degree relatives of affected individuals should be screened. The clinical/surgical part of the study showed that early screening and surgery is curative. This work was published in Gastroenterology. -- completion of a new version of the cancer genetics software FISHtrees including new methods to model simultaneously single-gene copy number changes, single chromosome copy-number changes, and genome duplications. This work was selected for presentation at the highly selective (< 20% acceptance rate) ISMB 2015 meeting and published in the associated issue of Bioinformatics. The work on JAGN1 mutations was done in collaboration with the group of Christoph Klein (Munich, Germany). The work on the IPMK mutation was done in collaboration with the groups of Stephen Wank (NIDDK/NIH) and Joan Bailey-Wilson (NHGRI/NIH) The work on the FISHtrees software was done in collaboration with the groups of Russell Schwartz (Carnegie Mellon University) and Thomas Ried (NCI/NIH).
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