遇见数据集

1000 Genomes HipSTR short tandem repeat modes and heterozygosities

收藏
Zenodo2026-05-29 更新2026-06-05 收录
官方服务:

资源简介:

Per STR locus statistics (mode, heterozygosity, number-called) for the 1000 Genomes Project samples (autosomes only). STRs called using HipSTR and stats computed with statSTR. statSTR output then joined with HipSTR reference using chromosome and start position as compound key. Children of trios were removed from the sample set. Uses 1000 Genomes HipSTR calls from A deep population reference panel of tandem repeat variation (Ziaei Jam et al., 2023). See https://github.com/RossDeVito/STR_length_from_context/tree/main/data/scripts/get_info_from_hipSTR for pipeline to create files based on those HipSTR calls. Fields: chrom: chromosome (chr1–chr22).start: STR start position (matches between the HipSTR reference and the HipSTR VCF).end_ref: STR end position from the HipSTR reference BED — the canonical STR boundary.end_call: end position derived from the HipSTR VCF REF allele. HipSTR adaptively extends the REF allele to encompass observed polymorphic flanking bases, so end_call is typically a few bp larger than end_ref by a locus-dependent amount (see TRTools mergeSTR docs and the EnsembleTR paper Methods).hipstr_name: HipSTR locus identifier (e.g. Human_STR_3).motif: repeat motif sequence.motif_len: motif length in bp.ref_copy_number: number of motif copies in the reference allele.het: per-locus heterozygosity computed by statSTR over the filtered sample set.mode: most frequent observed repeat copy number across the filtered sample set.numcalled: number of samples with a non-missing genotype at the locus.

提供机构:
Zenodo
创建时间:
2026-05-29
二维码
社区交流群
二维码
科研交流群
商业服务