Case Studies In Genetics

遗传学案例研究

• 批准号: 7969227
• 负责人: Alejandro A Schaffer
• 金额: $ 42.39万
• 依托单位: NATIONAL LIBRARY OF MEDICINE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7969227
• 关键词: Biological; Case Study; Chromosome Mapping; Collaborations; Computer software; Congenital Heart Defects; Data; Databases; Defect; Disease; Felis catus; Genealogy; Genes; Genetic; Genetic Databases; Genitourinary system; Genomics; Goals; Journals; London; Maps; Medicine; Methods; Molecular; Mutation; Neutropenia; New England; Paper; Publications; Publishing; Radiation Hybrid Map; Radiation Hybrid Mapping; Research Infrastructure; Research Personnel; Scientist; Software Tools; Syndrome; Texas; Universities; Work; career; college; genome-wide; medical schools

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. Two highlights from the past year are: -- publication on January 1, 2009 in the New England Journal of Medicine of a new syndrome involving neutropenia and heart defects and urogenital defects, and identification of the molecular cause as biallelic mutations in the gene G6PC3, -- the completion of a new dense genome-wide radiation hybrid map of the cat and an accompanying genetic map; the maps are available in NCBI's MapViewer and were published in a set of three papers, two in Genomics and one in Genetics. The work on G6PC3 deficiency was done in collaboration with Christoph Klein (Medical School of Hannover), Bodo Grimbacher (University College London), and Ulrich Salzer (Univerity of Freiburg). The cat map work was done in collaboration with Richa Agarwala (NCBI/NIH), Marilyn Menotti-Raymond (NCI/NIH), and William Murphy (Texas A&M)

在我的职业生涯中 用于遗传研究的数据库等）和数据库（洗礼家谱数据库）。 我与该软件的关联以及有效协作的过去记录 凭借湿实验室的科学家，可以进行更多此类合作。 过去一年的两个亮点是： - 2009年1月1日在《新英格兰医学杂志》上出版的新综合症杂志 中性粒细胞减少和心脏缺陷和泌尿生殖缺陷，以及分子原因的鉴定 作为基因G6PC3中的双重突变， - 猫的新型密集基因组辐射混合图和随附的 遗传图； 这些地图可在NCBI的MapViewer中找到，并以三篇论文出版。 两种基因组学，一项是遗传学。 G6PC3缺乏症的工作是与 克里斯托夫·克莱因（Hannover医学院），Bodo Grimbacher（伦敦大学学院）和 Ulrich Salzer（Freiburg的Univerity）。 猫地图工作是与Richa Agarwala（NCBI/NIH）合作完成的 玛丽莲·梅诺特·拉山（NCI/NIH）和威廉·墨菲（William Murphy）（德克萨斯州A＆M）