Genotyping for Studying the Genetic Contributions to Human Disease

CIDR项目致力于提供高质量、高通量的基因分型，以支持定位和识别导致人类疾病的基因。确定易患或导致各种人类疾病的基因位置将极大地有利于国家人类基因组研究所和国家卫生研究院的计划。当掌握了导致这些疾病的基因的染色体定位时，就可以识别可能涉及的基因，并研究其基因产物在正常和疾病状态下的功能。可以开发新的基于dna的诊断方法。最终，基因的鉴定可以阐明在这些疾病中变得紊乱的生化和生理途径，从而提供可能对开发预防和治疗干预措施至关重要的见解，从而改善公众健康。

The CIDR program is dedicated to providing high quality, high throughput genotyping in support of efforts to locate and identify genes responsible for human disease. The identification of the locations of genes that predispose or are responsible for a variety of human diseases will greatly benefit the programs of the National Human Genome Research Institute and the National Institutes of Health. When the chromosomal localizations of genes contributing to such diseases are in hand, the genes likely to be involved can be identified and the functioning of their gene products in normal and disease states can be studied. New DNA-based diagnostic methods can be developed. Ultimately, identification of the genes can illuminate the biochemical and physiological pathways that have become deranged in these disorders and thus provide insights that may be crucial to developing both preventive and therapeutic interventions, thereby improving the public health. The purpose of this acquisition is to provide high quality, high throughput human and mouse genotyping services and statistical genetics expertise dedicated towards finding the genetic basis for disease in support of extramural and intramural research programs supported by the thirteen participating Institutes.