vcf file of mendelian disorders

Figshare2025-08-01 更新2026-04-28 收录

孟德尔疾病基因变异检测

遗传病诊断

数据链接：

https://figshare.com/articles/dataset/vcf_file_of_mendelian_disorders/29757206 数据链接链接失效反馈

官方服务：

资源简介：

The study utilized a comprehensive dataset comprising 151 de-identified VCF files from patients with confirmed Mendelian disorders, sourced through collaborations with clinical diagnostic laboratories.

创建时间：

2025-08-01

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

Detailed sequential analysis of 961 suspected DMD patients leading to confirmed mutational status.

遗传病诊断

基因突变检测

Detailed sequential analysis of 961 suspected DMD patients leading to confirmed mutational status.

Figshare2020-06-19 更新50

FB0115_11yo male with dysmorphic facial features_Candidate Gene: HNRNPK

遗传病诊断

候选基因表型关联分析

The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand

DataCite Commons2020-07-30 更新40

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

2017-2020年北京原发性小头畸形诊断panel

遗传病诊断

高通量测序

依据项目任务书和考核指标，本项目产生的科学数据包括：根据既往报道订制的原发性小头畸形诊断用panel，利用高通量测序技术和本panel来辅助原发性小头畸形的诊断，订制地点在北京本实验室，时间为2017年。

国家人口健康科学数据中心40