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Homo sapiens Raw sequence reads

NIAID Data Ecosystem2026-05-01 收录

外显子组测序数据分析

临床遗传解读

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP424828 数据链接链接失效反馈

官方服务：

资源简介：

It is necessary to carry out WES genetic interpretation analysis in the hospital

应用场景：

创建时间：

2024-01-01

儿童tAML基因组突变发现

外显子组测序数据分析

We applied next generation sequencing technique to analyze the exome of a childhood treatment-related AML (tAML) patient and report isolation of multiple novel mutations in genes not previously associ

NIAID Data Ecosystem60

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

Whole exome sequencing summary statistics.

外显子组测序数据分析

Whole exome sequencing summary statistics.

NIAID Data Ecosystem30

NOD2 and ITPA causal variants in the exome sequencing data.

因果变异识别

外显子组测序数据分析

The composite phastCons is weighted sum of vertebrate cons, mammal cons and primate cons (shown in parenthesis), with weight 1/2, 1/3 and 1/6, respectively.

Figshare2015-12-02 更新50

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