首页/数据集/ena-DATASET-CGP-UT-06-12-2012-06:57:46:902-24 - samples

ena-DATASET-CGP-UT-06-12-2012-06:57:46:902-24 - samples

NIAID Data Ecosystem2026-03-09 收录

血小板减少症

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数据链接：

https://www.omicsdi.org/dataset/ega/EGAD00001000286 数据链接链接失效反馈

官方服务：

资源简介：

Whole-exome study of congenital macrothrombocytopeniaEGA dataset EGAD00001000286

应用场景：

创建时间：

2016-04-11

遗传诊断

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Introduction: Spinocerebellar ataxia type 36 (SCA36) is caused by large GGCCTG repeat expansion in the NOP56 gene. The genetic diagnosis based on Southern blot is expensive and time-consuming. This st

DataCite Commons2025-05-01 更新80

325e33ee-502b-4193-99f9-e9396103abb1 - samples

外显子测序

遗传学

Exome sequencing of ID trios and sibpairsEGA dataset EGAD00001005442

NIAID Data Ecosystem30

Table_4_Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.docx

癌症遗传风险

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Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable

NIAID Data Ecosystem20

Exome sequencing of Bilateral Anophthalmia cases Pilot Study

双侧无眼症遗传学

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This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Bilateral Anophthalmia.EGA study EGAS00001000356

NIAID Data Ecosystem30

Genetic variants identified by WES associated with either WBC or ANC.

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遗传关联性

Genetic variants identified by WES associated with either WBC or ANC.

Figshare2016-10-12 更新20