We continue to provide consultation and support (analytic, computer software, computation) for various investigators, both intramural and extramural, who are interested in assessing the genetic component of diseases, and we develop new methods of analysis where needed to fill the needs of these investigators. We have again worked this fiscal year with several scientists, both intramural (NIAMS and other NIH institutes) and extramural (both NIH and outside institutions) to assist in the design and execution of studies to 1) assess familial aggregation of disease, 2) investigate linkage relationships between disease and genetic markers, 3) assess the relative risks of various environmental components to the development of disease, and 4) provide software support for genetic analysis programs.
| Kovach, M J; Lin, J P; Boyadjiev, S et al. (1999) A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet 64:1580-93 |
