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 known to have the rare human disease "IL21R deficiency", which was published in Journal of Experimental Medicine; -- characterization of version 5 of the Anabaptist Genealogy Database (AGDB), which was published in PLoS One -- initial description of the software FISHtrees for analysis of single-cell copy number data, which was published in Bioinformatics The work on IL21R was done in collaboration with Christoph Klein (Munich, Germany). The work on epidemiology studies with AGDB is being done in collaboration with Professor Braxton Mitchell (Baltimore, MD) The work on FISHtrees is being done in collaboration with Thomas Ried (NCI/NIH) and Russell Schartz (Pittsburgh, PA) The paper on this topic that Dr. Schwartz presented at the July 2013 ISMB meeting in Berlin shared the prize for best paper in translational bioinformatics.

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Chowdhury, Salim Akhter; Shackney, Stanley E; Heselmeyer-Haddad, Kerstin et al. (2014) Algorithms to model single gene, single chromosome, and whole genome copy number changes jointly in tumor phylogenetics. PLoS Comput Biol 10:e1003740
Sassi, Atfa; Lazaroski, Sandra; Wu, Gang et al. (2014) Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol 133:1410-9, 1419.e1-13
Brim, Hassan; Abu-Asab, Mones S; Nouraie, Mehdi et al. (2014) An integrative CGH, MSI and candidate genes methylation analysis of colorectal tumors. PLoS One 9:e82185
Seifter, Ari; Singh, Sarabdeep; McArdle, Patrick F et al. (2014) Analysis of the bereavement effect after the death of a spouse in the Amish: a population-based retrospective cohort study. BMJ Open 4:e003670
Gertz, Edward Michael; Hiekkalinna, Tero; Digabel, Sébastien Le et al. (2014) PSEUDOMARKER 2.0: efficient computation of likelihoods using NOMAD. BMC Bioinformatics 15:47
Triot, Alexa; Järvinen, Päivi M; Arostegui, Juan I et al. (2014) Inherited biallelic CSF3R mutations in severe congenital neutropenia. Blood 123:3811-7
Schäffer, Alejandro A; Klein, Christoph (2013) Animal models of human granulocyte diseases. Hematol Oncol Clin North Am 27:129-48, ix
Chowdhury, Salim Akhter; Shackney, Stanley E; Heselmeyer-Haddad, Kerstin et al. (2013) Phylogenetic analysis of multiprobe fluorescence in situ hybridization data from tumor cell populations. Bioinformatics 29:i189-98
Kotlarz, Daniel; Zietara, Natalia; Uzel, Gulbu et al. (2013) Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med 210:433-43
Cullinane, Andrew R; Schaffer, Alejandro A; Huizing, Marjan (2013) The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease. Traffic 14:749-66

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