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 and more such collaborations.? Two highlights from the past year are:? -- publication in late 2007 in the New England Journal of Medicine that heterozygous? mutations in STAT3 cause hyper-IgE syndrome? -- the completion of a dense genome-wide radiation hybrid map of the horse;? the map is already available in NCBI's MapViewer and will be formally? published soon in Volume 122, issue 1 of Cytogenetic and Genome Research.? ? The immunology gene hunting work was done in collaboration with Steven Holland? (NIAID/NIH), Bodo Grimbacher (University College London), and Jennifer? PucK (UC San Francisco).? ? The horse map work was done in collaboration with Richa Agarwala (NCBI/NIH),? Edward Rice (former student at NCBI/NIH), Terje Raudsepp (Texas A&M) and? Bhanu Chowdhary (Texas A&M).

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Library of Medicine (NLM)
Type
Intramural Research (Z01)
Project #
1Z01LM000097-07
Application #
7735079
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
7
Fiscal Year
2008
Total Cost
$293,131
Indirect Cost

  Institution

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

  Publications

Chattaraj, Parna; Munjal, Tina; Honda, Keiji et al. (2017) A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. J Med Genet 54:665-673
Altschul, Stephen F; Gertz, E Michael; Agarwala, Richa et al. (2009) PSI-BLAST pseudocounts and the minimum description length principle. Nucleic Acids Res 37:815-24
Pollin, Toni I; McBride, Daniel J; Agarwala, Richa et al. (2008) Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish. Hum Hered 65:91-104
Ianella, P; Venancio, L P R; Stafuzza, N B et al. (2008) First radiation hybrid map of the river buffalo X chromosome (BBUX) and comparison with BTAX. Anim Genet 39:196-200
Salzer, Ulrich; Neumann, Carla; Thiel, Jens et al. (2008) Screening of functional and positional candidate genes in families with common variable immunodeficiency. BMC Immunol 9:3
Morgulis, Aleksandr; Coulouris, George; Raytselis, Yan et al. (2008) Database indexing for production MegaBLAST searches. Bioinformatics 24:1757-64
Schaffer, Alejandro A; Rice, Edward Stallknecht; Cook, William et al. (2007) rh_tsp_map 3.0: end-to-end radiation hybrid mapping with improved speed and quality control. Bioinformatics 23:1156-8
Schaffer, Alejandro A; Klein, Christoph (2007) Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol 7:481-94
Miziara, M N; Goldammer, T; Stafuzza, N B et al. (2007) A radiation hybrid map of river buffalo (Bubalus bubalis) chromosome 1 (BBU1). Cytogenet Genome Res 119:100-4
Stafuzza, N B; Ianella, P; Miziara, M N et al. (2007) Preliminary radiation hybrid map for river buffalo chromosome 6 and comparison to bovine chromosome 3. Anim Genet 38:406-9

Showing the most recent 10 out of 55 publications