遇见数据集

Repeat catalogs for TRGT

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Zenodo2023-09-08 更新2026-05-26 收录
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This dataset contains various repeat catalogs for the Tandem Repeat Genotyping Tool (TRGT): pathogenic_repeats.hg38.bed contains annotations of 56 known pathogenic repeats. polymorphic_repeats.hg38.bed contains 171,146 polymorphic repeats. The original version of this catalog was made for short reads and is distributed under CC BY-SA 4.0 license. adotto_repeats.hg38.bed contains 937,122 repeats originally released by the Genome in a Bottle tandem repeat benchmarking project 10.5281/zenodo.7226352. adotto_hprc.tdb.tar is a TRGTdb file containing alleles of repeats from the adotto_repeats.hg38.bed catalog across 100 HPRC samples. Please consider citing TRGT preprint if you are using these data.

本数据集包含适用于串联重复基因分型工具(Tandem Repeat Genotyping Tool,TRGT)的多款重复序列目录:pathogenic_repeats.hg38.bed 包含56种已知致病性重复序列的注释信息;polymorphic_repeats.hg38.bed 收录了171146条多态性重复序列。该目录的原始版本专为短读长测序数据设计,采用CC BY-SA 4.0许可协议进行分发。adotto_repeats.hg38.bed 包含937122条重复序列,其原始数据由“基因组在瓶中(Genome in a Bottle)”串联重复基准测试项目发布,DOI为10.5281/zenodo.7226352。adotto_hprc.tdb.tar 为TRGTdb格式文件,收录了来自adotto_repeats.hg38.bed目录的重复序列在100份人类泛基因组参考联盟(Human Pangenome Reference Consortium, HPRC)样本中的等位基因信息。若使用本数据集,请考虑引用TRGT的预印本论文。

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Zenodo
创建时间:
2023-09-08
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