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exome sequencing of ACTN2 in a neonate with ventricular myocardium noncompaction

NIAID Data Ecosystem2026-05-01 收录

先天性心肌病遗传诊断

外显子组测序数据分析

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP436346 数据链接链接失效反馈

官方服务：

资源简介：

exome sequencing of ACTN2 in a neonate with ventricular myocardium noncompaction

应用场景：

创建时间：

2023-05-09

卵巢癌遗传易感性

外显子组测序数据分析

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"

罕见病遗传诊断

外显子组测序数据分析

#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

扩张型心肌病遗传变异

外显子组测序数据分析

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

癌症易感基因发现

外显子组测序数据分析

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).

外显子组测序数据分析

肽段结果关联研究

Exome sequencing and peptide results by donor type (n = 77).

Figshare2017-12-02 更新40