iSCORE-PD: Whole-genome sequencing and variant calling of isogenic hESC clones and controls
Year: 2026
Type: dataset
Abstract: 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
Authors: Busquets, Oriol, Li, Hanqin, Syed, Khaja Mohieddin, Alvarez-Jerez, Pilar, Dunnack, Jesse, Lo Bu, Riana, Verma, Yogendra, Pangilinan, Gabriella R., Martin, Annika, Straub, Jannes, Du, YuXin, Simon, Vivien M., Poser, Steven, Bush, Zipporiah, Diaz, Jessica, Sahagun, Atehsa, Gao, Jianpu, Hong, Samantha, Hernandez, Dena G., Levine, Kristin S., Pochet, Nathalie, Booth, Ezgi O., Blanchette, Marco, Bateup, Helen S., Rio, Donald C., Blauwendraat, Cornelis, Hockemeyer, Dirk, Soldner, Frank
Institutions: Albert Einstein College of Medicine, Aligning Science Across Parkinson's, Innovative Genomics Institute, University of California, Berkeley, National Institutes of Health, National Institute of Neurological Disorders and Stroke, UCL Queen Square Institute of Neurology, University College London, National Institute on Aging, Chan Zuckerberg Biohub San Francisco
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7154587440