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 the past year are: -- publication n the New England Journal of Medicine of a new study showing that a homozygous mutation in the gene CARD9 causes susceptibility to fungal infections in humans -- publication in the New England Journal of Medicine of a new study showing that mutations in either of the genes IL10RA and IL10RB cause neonatal-onset inflammatory bowel disease (IBD) and ahowing that this form of IBD can be treated by a hemotopoietic stem cell transplant -- release of a substantially improved version of the genealogy software PedHunter now version 2.0), accopanied by a study of the founder structure of the Old Order Amish. The work on CARD9 deficiency was done in collaboration with Bodo Grimbacher (University College London), and Ulrich Salzer (Univerity of Freiburg). The work on IL10R deficiency was done in collaborations with Bodo Grimbacher (University College London), and Ulrich Salzer (Univerity of Freiburg), and Christoph Klein (Medical School of Hannover) The work on the Amish study was done in collaboration with Richa Agarwala (NIH/NCBI) and Toni Pollin (University of Maryland Medical School)

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Wangsa, Darawalee; Braun, Rüdiger; Schiefer, Madison et al. (2018) The Evolution of Single Cell-derived Colorectal Cancer Cell Lines is Dominated by the Continued Selection of Tumor Specific Genomic Imbalances, Despite Random Chromosomal Instability. Carcinogenesis :
Oltmann, Johanna; Heselmeyer-Haddad, Kerstin; Hernandez, Leanora S et al. (2018) Aneuploidy, TP53 mutation, and amplification of MYC correlate with increased intratumor heterogeneity and poor prognosis of breast cancer patients. Genes Chromosomes Cancer 57:165-175
Rogozin, Igor B; Gertz, E Michael; Baranov, Pasha V et al. (2018) Genome-Wide Changes in Protein Translation Efficiency Are Associated with Autism. Genome Biol Evol 10:1902-1919
Schubert, Desirée; Klein, Marie-Christine; Hassdenteufel, Sarah et al. (2018) Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). J Allergy Clin Immunol 141:1427-1438
Frey-Jakobs, Stefanie; Hartberger, Julia M; Fliegauf, Manfred et al. (2018) ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol 3:
Hatcher, Eneida L; Zhdanov, Sergey A; Bao, Yiming et al. (2017) Virus Variation Resource - improved response to emergent viral outbreaks. Nucleic Acids Res 45:D482-D490
Witzel, Maximilian; Petersheim, Daniel; Fan, Yanxin et al. (2017) Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet 49:742-752
Schwartz, Russell; Schäffer, Alejandro A (2017) The evolution of tumour phylogenetics: principles and practice. Nat Rev Genet 18:213-229
Joehanes, Roby; Zhang, Xiaoling; Huan, Tianxiao et al. (2017) Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. Genome Biol 18:16
Jin, Yumi; Schäffer, Alejandro A; Sherry, Stephen T et al. (2017) Quickly identifying identical and closely related subjects in large databases using genotype data. PLoS One 12:e0179106

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