Clinical Informatics Pertaining to Erythroid Cell Genomics and Biology.

摘要：应红系生物学界的要求，本实验室一直致力于后基因组生物学背景下红系细胞遗传学的更新和扩展。先前，我们报道了人类红母细胞文库的测序，以生成描述红母细胞转录组的信息数据库。该数据库名为Hembase (http://hembase.niddk.nih.gov/)，由表达序列标签（EST）集合与其他公开可用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，Hembase还整合了一些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），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，以包括一个未定义的转录本类别，这些转录本既不属于基因组内的聚集转录灶，也不属于蛋白质编码区域。该数据库在万维网上展示，以传播从实验室产生的信息，并向基础和临床社区介绍红系疾病的基因组组织视图。数据库的更新已在《科学与生物技术》杂志上发表。

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 communities with a genome-organized view of erythroid disease. The database updates have been featured in Science and Biotechniques journals.