Abstract

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 second form of the immunodficiency called specific granule deficiency (SGD) of neutrophils, which is due to biallelic mutations in SMARCD2; this problem in immunology had been explicitly open since 2004; -- completion of a characterization of and display tool for expression quantitative trait loci (eQTLs) in the Framingham cohort -- completion of a software tool called GRAF to identify duplicate samples and samples from closely related individuals in dbGaP data The work on specific granule deficiency was done in collaboration with the group of Christoph Klein (Munich, Germany). The work on eQTLs was done in collaboration with the groups of Peter Munson (CIT/NIH) and Dan Levy (NHLBI/NIH) The work on GRAF was done jointly with the group of Michael Feolo within the National Center for Biotechnology Information, which is the part of NIH where I work.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Library of Medicine (NLM)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIALM000097-16
Application #
9550568
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
16
Fiscal Year
2017
Total Cost
Indirect Cost

  Institution

Name
National Library of Medicine
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

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

Showing the most recent 10 out of 74 publications