iSCORE-PD: Whole-genome sequencing and variant calling of isogenic hESC clones and controls
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This Zenodo deposit contains a publicly available description of the Dataset: Title: "iSCORE-PD: Whole-genome sequencing and variant calling of isogenic hESC clones and controls". Description: Whole-genome sequencing (WGS) data for the iSCORE-PD isogenic hESC clone collection. 150bp paired-end WGS was performed on Illumina NovaSeq X for 49 mutant clones across 11 PD-linked genes, 12 control lines (8 engineered wild-type subclones, 3 WIBR3 subclones, and the WIBR3 parental line), and 5 DJ1/PARK7 heterozygous clones. Variants were called using DeepVariant and jointly genotyped with GLnexus v1.4.1, producing per-chromosome VCF files aligned to GRCh38. This dataset is made available to researchers via the ASAP CRN Cloud: cloud.parkinsonsroadmap.org. Instructions for how to request access can be found in the User Manual. This research was funded by the Aligning Science Across Parkinson's Collaborative Research Network (ASAP CRN), through the Michael J. Fox Foundation for Parkinson's Research (MJFF). This Zenodo deposit was created by the ASAP CRN Cloud staff on behalf of the dataset authors. It provides a citable reference for a CRN Cloud Dataset
本Zenodo存档包含公开可用的数据集说明: 标题:“iSCORE-PD:同基因人胚胎干细胞克隆及对照的全基因组测序与变异识别” 描述:iSCORE-PD同基因人胚胎干细胞(human embryonic stem cell, hESC)克隆集合的全基因组测序(whole-genome sequencing, WGS)数据。本研究基于因美纳(Illumina)NovaSeq X测序平台,对49株携带11个帕金森病(Parkinson's Disease, PD)相关基因突变的克隆、12株对照细胞系(含8株工程化野生型亚克隆、3株WIBR3亚克隆及WIBR3亲本细胞系)以及5株DJ1/PARK7杂合克隆开展150bp双端全基因组测序。变异识别采用DeepVariant工具完成,并通过GLnexus v1.4.1进行联合基因分型,最终生成比对至GRCh38参考基因组的染色体级VCF(Variant Call Format,变异调用格式)文件。 本数据集通过帕金森病研究科学协同网络(Aligning Science Across Parkinson's Collaborative Research Network, ASAP CRN)云平台(cloud.parkinsonsroadmap.org)向研究人员开放。访问申请流程详见用户手册。 本研究由帕金森病研究科学协同网络(ASAP CRN)通过迈克尔·J·福克斯帕金森病研究基金会(Michael J. Fox Foundation for Parkinson's Research, MJFF)资助。 本Zenodo存档由ASAP CRN云平台工作人员代表数据集作者创建,可为CRN云平台数据集提供可引用的学术参考。



