官方服务：
资源简介：
To identify the candidate genes causing dentinogenesis imperfecta
应用场景：
创建时间：
2023-04-12
相关数据集
d1853fe2-f37b-4874-9f9f-6b508d9faa4c - samples
Germline exome sequencing data (paired Fastq files) from 516 BRCA1/2-negative women affected with familial high-grade serous (or similar) ovarian carcinoma, as analysed and described in Subramanian et
NIAID Data Ecosystem70
Data files for manuscript "Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders"
#2021-07-23 #Summary This ZIP-file contains the Excel files used for the clinical and variant analyses for the manuscript "Exome first approach to reduce diagnostic costs and time – retrospect
Zenodo2021-07-23 更新50
Variants Detected by Whole Exome Sequencing in DCM Patients
These variants emerged as the principal findings of our Whole Exome Sequencing analysis in patients with dilated cardiomyopathy.
Figshare2025-11-23 更新30
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, approximately half of which cannot be explained by known genes. To discover genes, we analyse germline exome sequenc
NIAID Data Ecosystem50
Exome sequencing and peptide results by donor type (n = 77).
Exome sequencing and peptide results by donor type (n = 77).
Figshare2017-12-02 更新40
