Clinical ophthalmic molecular diagnostics and discovery

眼科遗传学实验室。旨在通过NEI临床服务收集和管理生物标本和分子诊断数据，以促进眼科疾病研究。NEI临床项目中的多项研究招募了受试者，包括NCT 02077894、NCT 01432847、NCT 00378742和NCT 02471287。诊断测试通过商业实验室进行。通过CLIA认证的基因检测在内部进行特定的测试，包括X连锁视网膜劈裂症，蓝锥单色性，以及家庭隔离和研究结果确认的定点测试。临床报告返回临床，临床表型和分子诊断结果在定期的临床分子查房会议上直接进行比较和讨论。 对于生物标本管理，实验室内保存了来自4000多名患者的DNA样本和30多个患者细胞系。代表性的遗传性眼病包括但不限于：全色盲、白化病、无虹膜、缺损、小眼症、无眼症、阿-里二氏综合征、Best病、Bietti晶体营养不良、无脉络膜症、视锥杆营养不良、先天性静止性夜盲、角膜营养不良、青少年X连锁视网膜劈裂、Leber遗传性视神经病（LHON）、线粒体DNA疾病、视神经萎缩1型、模式性营养不良、色素性视网膜炎、Sorsby眼底营养不良、Stickler综合征和Stargardt病以及Usher综合征。 该实验室还开发了一个生物信息学管道，用于处理下一代测序数据，包括面板，外显子组和基因组数据集，用于注释不同的变异类型，如单核苷酸变异，插入缺失，大缺失和重复，以及包括易位在内的结构变异。变异优先化工具由实验室使用大型疾病队列、内部变异频率和管道注释的开发（如变异约束、计算机预测因子和已发表的表观基因组数据集）开发。 因此，眼科基因组学实验室是一个完全集成的临床功能基因组实验室，支持NEI临床护理，研究工作和校外合作。

The Ophthalmic Genetics Laboratory. was designed to gather and manage biospecimens and molecular diagnostic data for use in facilitating ophthalmic disease research through the NEI clinical service. Individuals have been recruited into multiple studies within the NEI clinical program, including NCT02077894, NCT01432847, NCT00378742, and NCT02471287. Diagnostic testing is sent through commercial laboratories. Specific tests are performed in-house via CLIA-certified genetic testing, including X-linked retinoschisis, blue cone monochromacy, and site-directed testing for familial segregation and research finding confirmation. Clinical reports are returned to clinic, and clinical phenotyping and molecular diagnostic results are directly compared and discussed in regular clinical molecular rounds meetings. For biospecimen management, over DNA samples from over 4000 patients and more than 30 patient cell lines are maintained within the laboratory. Represented heritable ocular conditions include but are not limited to: Achromatopsia, Albinism, Aniridia, Coloboma, Microphthalmia, Anophthalmia, Axenfeld-Rieger Syndrome, Best Disease, Bietti's Crystalline Dystrophy, Choroideremia, Cone Rod Dystrophy, Congenital Stationary Night Blindness, Corneal Dystrophy, Juvenile X-linked Retinoschisis, Leber Hereditary Optic Neuropathy (LHON), mitochondrial DNA disorders, Optic Atrophy Type 1, Pattern Dystrophy, Retinitis Pigmentosa, Sorsby Fundus Dystrophy, Stickler Syndrome and Stargardt Disease, and Usher Syndrome. The laboratory has also developed a bioinformatics pipeline for processing next-generation sequencing data, including panel, exome, and genome datasets, for annotating different variation types such as single nucleotide variants, insertions-deletions, large deletions, and duplications, and structural variations including translocations. Variant prioritization tools are developed by the lab using large disease cohorts, internal variant frequencies, and development of pipeline annotations such as variation constraint, in silico predictors, and published epigenomic datasets. As such, the Ophthalmic Genomics Laboratory is a fully integrated, clinical functional genomic laboratory supporting NEI clinical care, research efforts, and extramural collaborations.