Clinical Informatics Pertaining to Erythroid Cell Genomics and Biology.

总结：应红系生物学界的要求，实验室继续努力更新和扩大后基因组生物学背景下的红系细胞遗传学描述。先前，我们报道了人类成红细胞文库的测序，以生成描述红细胞转录组的信息数据库。该数据库名为Hembase（http：//hembase.niddk.nih.gov/），由我们的表达序列标签（EST）集合与其他公开数据库中包含的序列的同源性比较组成。Hembase转录组数据库的当前版本是根据2006年3月的人类基因组注释组织的。此外，几种疾病相关的搜索功能（血型，细胞骨架，血红素合成，血红蛋白，溶血相关酶）被集成到Hembase中，以提供基于基因组的红系疾病组织。基于最近发现的不编码蛋白质的功能性RNA分子，该数据库已被更新，以包括不属于基因组内的成簇转录灶或蛋白质编码区的未定义类别的转录本。该数据库在全球网络上发布，以传播实验室产生的信息，并介绍红系疾病的基因组组织观点的基础和临床社区。数据库更新已在科学和生物技术期刊上发表。

Summary: At the request of the erythroid biology community, the laboratory has continued its efforts to update and expand the description of erythroid cell genetics in the context of post-genome biology. Previously, we reported the sequencing of human erythroblast libraries to generate an informatic database describing the erythroid transcriptome. Named Hembase (http://hembase.niddk.nih.gov/), the database is comprised of homology comparisons from our Expressed Sequence Tag (EST) collection with sequences contained within other publicly available databases. The current version of the Hembase transcriptome database is organized according to the March 2006 annotation of the human genome. In addition, several disease-related search functions (Blood Groups, Cytoskeleton, Heme Synthesis, Hemoglobin, Hemolysis Related Enzymes) were integrated into Hembase to provide a genome-based organization of erythroid diseases. Based upon the recent discovery of functional RNA molecules that do not encode proteins, the database has been updated to include an undefined category of transcripts that do belong neither to clustered transcriptional foci within the genome nor protein-encoding regions. The database is presented on the worldwide web to disseminate information generated from the laboratory and to introduce the basic and clinical communites with a genome-organized view of erythroid disease. The database updates have been featured in Science and Biotechniques journals.