Case Studies In Genetics

Schaffer, Alejandro A.

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 the September 2006 issue of Genome Research of a paper showing that? a large deletion disrupting the LIX1 gene causes spinal muscular atrophy in cats.;? -- the discovery of the gene mutated in some cases of severe congenital neutropenia? including those in the original family published by Kostmann in 1956.? ? The cat SMA work is part of a longstanding collaboration with Dr. Marilyn Menotti-Raymond (NCI).? The pedigree in this particular study was developed and phenotyped by Prof. John Fyfe;? I have also been collaborating with Prof. Fyfe on some dog genetic? studies.? ? The neutropenia work is part of a longstanding collaboration with Dr. Bodo Grimbacher? (U. Freiburg, GERMANY) on human immunodeficiencies. Our work on neutropenia, including? a paper on Hermansky-Pudlak syndrome type 2 published int he July 1 issue of? Blood, is led by Prof. Christoph Klein (Hannover Medical School, GERMANY).

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Library of Medicine (NLM)
• Type: Intramural Research (Z01)
• Project #: 1Z01LM000097-05
• Application #: 7316272
• Study Section: (CBB)
• Support Year: 5
• Fiscal Year: 2006

Institution

• Name: National Library of Medicine
• Country: United States

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

Bohn, Georg; Allroth, Anna; Brandes, Gudrun et al. (2007) A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med 13:38-45

Kehler, James S; David, Victor A; Schaffer, Alejandro A et al. (2007) Four independent mutations in the feline fibroblast growth factor 5 gene determine the long-haired phenotype in domestic cats. J Hered 98:555-66

Goh, Glenda; Raudsepp, Terje; Durkin, Keith et al. (2007) High-resolution gene maps of horse chromosomes 14 and 21: additional insights into evolution and rearrangements of HSA5 homologs in mammals. Genomics 89:89-112

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