Data - A Pre-Diagnostic Tool for Familial Mediterranean Fever a Rare Genetic Disorder

NIAID Data Ecosystem2026-05-02 收录

遗传病诊断

家族性地中海热

数据链接：

https://zenodo.org/record/13731732 数据链接链接失效反馈

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资源简介：

Raw data relating the paper titled A Pre-Diagnostic Tool for Familial Mediterranean Fever a Rare Genetic Disorder.

创建时间：

2024-09-08

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

遗传病诊断

近亲遗传病共发概率

Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseas

NIAID Data Ecosystem60

婴幼儿疑难病临床筛查、诊疗规范及标准化临床路径

遗传病诊断

家畜生殖健康

本数据集包括已发表的三篇临床专家共识和三份遗传病的基因诊断的规范流程。具体为儿童支气管扩张症,儿童原发性纤毛运动障碍,白化病的诊断和临床专家共识，以及遗传性代谢病，遗传性肾病，鱼鳞病的基因诊断规范流程

国家人口健康科学数据中心40

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

遗传病诊断

眼科遗传综合征

CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.

NIAID Data Ecosystem40

遗传性耳聋数据预处理与预测模型建立方案

遗传病诊断

平台技术

本数据集应用于云平台的遗传性耳聋基因诊断，根据每个基因的突变值，根据基因突变值来判断该基因突变状态与致病性。对不同的基因突变结果给出相应的基因诊断结论、遗传风险评估以及遗传咨询建议，并生成云平台诊断建议报告单。

国家人口健康科学数据中心50

Differentiating Inbred Mouse Strains from Each Other and Those with Single Gene Mutations Using Hair Proteomics

毛囊发育蛋白质组学

遗传病诊断

Mutant laboratory mice with distinctive hair phenotypes are useful for identifying genes responsible for hair diseases. The work presented here demonstrates that shotgun proteomic profiling can distin

NIAID Data Ecosystem40

Data - A Pre-Diagnostic Tool for Familial Mediterranean Fever a Rare Genetic Disorder

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