遇见数据集

Aggregated variant data from whole-genome sequenced tinnitus patients (TIGER)

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Zenodo2022-11-08 更新2026-05-28 收录
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Aggregated variant data obtained from tinnitus patients from Sweden. Uploaded datasets are storage in annotated csv files. Annotation was performed using VEP (v106), including population frequencies for each variant from gnomAD, non-finnish Europeans from gnomAD, and swedish population from SweGen project. Pathogenicity scores from CADD are also annotated for each variant. Variants from genes found to be enriched in a gene burden analysis can be found in this aggregated dataset. <strong>agg.tiger.csv</strong> - TIGER cohort is composed by 97 swedish whole-genome sequenced constant tinnitus patients. <strong>agg.jaguar.csv</strong> - JAGUAR cohort is composed by 147 swedish whole-exome sequenced tinnitus patients . <strong>agg.sevtin.csv</strong> - SEVTIN cohort is a subcohort from TIGER, with 34 WGS patients seggregating severe tinnitus phenotype. <strong>agg.controls.csv</strong> - Controls is a swedish population cohort composed by 151 whole-exome sequenced swedish individuals.

本数据集为瑞典耳鸣患者的汇总遗传变异数据。上传的数据集均以带注释的CSV文件格式存储。注释工作采用VEP(Variant Effect Predictor,v106版本)完成,注释内容涵盖各变异在gnomAD数据库、gnomAD非芬兰欧洲人群以及SweGen项目瑞典人群中的群体频率。各变异的CADD(Combined Annotation Dependent Depletion)致病性评分亦已完成注释。本汇总数据集同时收录经基因负荷分析筛选得到的富集基因中的遗传变异。 **agg.tiger.csv**:TIGER队列包含97名接受全基因组测序(Whole Genome Sequencing, WGS)的瑞典持续性耳鸣患者。 **agg.jaguar.csv**:JAGUAR队列包含147名接受全外显子组测序(Whole Exome Sequencing, WES)的瑞典耳鸣患者。 **agg.sevtin.csv**:SEVTIN队列是TIGER的子队列,包含34名表现为重度耳鸣表型的全基因组测序患者。 **agg.controls.csv**:对照队列是由151名接受全外显子组测序的瑞典人群组成的群体队列。

提供机构:
Zenodo
创建时间:
2022-11-08
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