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Whole exome sequencing of patients with skeletal dysplasia

NIAID Data Ecosystem2026-04-25 收录

骨骼遗传病基因诊断

外显子组测序数据分析

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP226032 数据链接链接失效反馈

官方服务：

资源简介：

In order to unravel novel mutations in patients with skeletal dysplasia, we exome sequenced several patients.

应用场景：

创建时间：

2019-10-18

先天性心脏病

外显子组测序数据分析

Background: Patent ductus arteriosus (PDA) is one of the most common congenital heart defects causing pulmonary hypertension, infective endocarditis, and even death. The important role of genetics in

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d1853fe2-f37b-4874-9f9f-6b508d9faa4c - samples

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

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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

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Additional file 3 of Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data

遗传风险预测

外显子组测序数据分析

Additional file 3: Supplementary table 1.

DataCite Commons2022-06-27 更新90

OEX_Yexin_2204011056

胰腺癌基因组学

外显子组测序数据分析

PDAC_121_WES

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