Case Studies In Genetics

遗传学案例研究

• 批准号: 7594472
• 负责人: Alejandro A Schaffer
• 金额: $ 15.89万
• 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/7594472
• 关键词: 3' Untranslated Regions; Bioinformatics; Biological; Bubalus; Buffaloes; Case Study; Collaborations; Computer software; Data; Databases; Disease; Equus caballus; Felis catus; Future; Genealogy; Genes; Genetic; Genetic Databases; Genome; Genomics; Germany; Goals; Human; Human Genetics; Immunologic Deficiency Syndromes; Intervention; London; Maps; Medicine; Methods; Molecular; Mutation; Nature; Neutropenia; Paper; Publications; Publishing; Radiation Hybrid Map; Radiation Hybrid Mapping; Research; Research Infrastructure; Research Personnel; Rice; Rivers; Scientist; Software Tools; Syndrome; Texas; Universities; Work; career; cat genome; college; medical schools

During my career I have worked on several projects creating software (FASTLINK, CASPAR, rhtspmap, 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 January 2007 issue of Nature Medicine of the characterization of a new hypopigmentationneutropenia syndrome and identification of its molecular cause as a mutation in the 3 untranslated region of the gene encoding p14. -- the completion of major improvements to our software rhtspmap for constructing radiation hybrid maps; the new version 3.0 was released and accompanied by a short paper in Bioinformatics describing the improvements. The immunodeficiency work is part of a longstanding collaboration with Dr. Bodo Grimbacher (formerly U. Freiburg, GERMANY, now University College London, UK) on genetics of human immunodeficiencies. Our work on neutropenia is led by Prof. Christoph Klein (Hannover Medical School, GERMANY). We are actively hunting genes for other human immunodeficiencies and also hunting more neutropenia genes. The work on rhtspmap is done in collaboration with Dr. Richa Agarwala (NCBI) and summer intern Edward Stallknecht Rice. We try to make the software general and robust enough that users can use it themselves, and some published maps have been constructed with rhtspmap, without our intervention. We have been collaborating with William Murphy (Texas A M) University on maps of the cat (Felis catus) and with Bhanu Chowhowdhary and Terje Raudsepp (also Texas A M) on maps of the horse (Equus caballus). During this past year we started collaborating with M. Elisabete J. Amaral (Sao Paulo University) and James Womack on maps of river buffalo (Bubalus bubalis). Several publications resulted from these collaborations including a paper in the February 2007 issue of Genomics presenting a new. denser map of the cat. This map was used by LGDNCI Frederick and their collaborators as a guide to making the first genome assembly of parts of the cat genome, which will be published in a future issue of Genome Research.

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，越来越多的此类合作。 过去一年的两个亮点是： - 在2007年1月发表的自然医学发表的表征 一种新的型性脱落性内核综合征及其分子的鉴定 原因是编码p14的基因的3个未翻译区域中的突变。 - 完成构造辐射的软件RHTSPMAP的重大改进 混合图；新版本3.0发行了，并伴随着一篇简短的论文 生物信息学描述了这些改进。 免疫缺陷工作是与Bodo Grimbacher博士长期合作的一部分 （以前是德国的U. Freiburg，现在是英国伦敦大学学院） 人类免疫缺陷。我们关于中性粒细胞减少症的工作由克里斯托夫·克莱因教授（Hannover）领导 德国医学院）。我们正在积极寻找其他人类免疫缺陷的基因 并狩猎更多的中性粒细胞减少基因。 关于RHTSPMAP的工作是与Richa Agarwala博士（NCBI）和暑期实习生Edward Stallknecht Rice合作完成的。我们试图使软件通用和强大，以至于用户可以 自己使用它，并没有我们 干涉。我们一直在与威廉·墨菲（William Murphy）（德克萨斯州M）大学合作与猫（Felis Catus）以及Bhanu Chowhowdhary和Terje Raudsepp（也是德克萨斯州的MAP）上的马（equus caballus）合作。在过去的一年中，我们开始与伊丽莎白·J·阿马拉尔（M.这些合作造成的一些出版物包括在2007年2月发行的基因组学上发表的一篇论文。猫的密集地图。该地图由Lgdnci Frederick及其使用 合作者作为制作猫基因组部分的第一个基因组组装的指南， 将在未来的基因组研究中发表。