ena-DATASET-UCAM-GEL-15-06-2021-12:25:41:698-911 - samples

NIAID Data Ecosystem2026-03-13 收录

儿科重症基因组测序

遗传病诊断

数据链接：

https://www.omicsdi.org/dataset/ega/EGAD00001007780 数据链接链接失效反馈

官方服务：

资源简介：

Whole genome sequencing of sick children in neonatal and paediatric intensive care units, aligned to reference assembly GRCh37.EGA dataset EGAD00001007780

创建时间：

2022-08-03

Additional file 2 of Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

遗传病诊断

RNA测序

Additional file 2: Supplemental table. Table S1 Detailed list of samples and variants assessed using RNA-seq and RT-PCR.

DataCite Commons2024-09-10 更新100

Using long-read sequencing to detect and subtype a case with Temple syndrome

遗传病诊断

长读长测序

Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy, paternal deletion of 14q32, or aberrant meth

DataCite Commons2026-03-04 更新60

阳江市遗传病诊断、产前诊断的母婴保健技术考核合格证书核发信息

母婴保健技术

遗传病诊断

该数据包含了广东省阳江市2021年至今市级遗传病诊断、产前诊断的母婴保健技术考核合格证书核发审批信息，指阳江市卫生健康局审批信息的变动情况进行跟、采集、分析、预测、公布的活动。本信息以项目名称、统一社会信用代码、医疗机构名称等信息为基础，并采取监督检查等手段，加强对审批信息分析，提高审批信息的时效性和准确性。

开放广东2026-07-15 更新60

Optical genome mapping enables accurate testing of large repeat expansions

基因组映射

遗传病诊断

Dataset belonging to the study entitled: "Optical genome mapping enables accurate testing of large repeat expansions". This dataset contains for each of the 85 samples the local guided assembly as ge

DataCite Commons2025-03-12 更新80

Additional file 3 of Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

遗传病诊断

成人未确诊疾病

Additional file 3.

DataCite Commons2024-08-17 更新60