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NG00098 - Case of CBD for determining Cryo-EM structure of 4R tau


This study aims to determine the structure of the 4R tau conformers present in corticobasal degeneration (CBD) tau pathology.

Sequencing information:
Sequencing libraries were prepared from 100 ng high quality genomic DNA from cerebellum using the Illumina Nextera DNA Flex Library Prep Kit, and assessed using a Qubit and Agilent Bioanalyzer. High-throughput sequencing was carried out on multiple libraries pooled in equal molarity using a NovaSeq6000 (150 bp paired end configuration, Illumina) and aligned to the human reference genome GRCh38 using BWA and Bwakit (v0.7.15). ExpansionHunter was applied to estimate expansion numbers of short tandem repeats (v2.5.5) and germline variants were identified with Strelka2 (v2.9.9), with default parameters for whole genome sequence data. The variants were annotated for their effects with ANNOVAR. Sequencing studies were carried out in the Center for Medical Genomics at Indiana University School of Medicine, which is partially supported by the Indiana Genomic Initiative at Indiana University (INGEN).

Access to Whole Genome sequencing data is available through an approved NIAGADS application. Once approved, the dataset will be transferred via S3/FTP or external hard drive.

Molecular Data Type




Submission date: 

Case 3 was a male from the U.S. who died aged 52 following a seven year history of personality changes and cognitive dysfunction. Neuropathologically, this individual exhibited signs of CBD, with abundant 4R tau- and silver positive neuronal inclusions, neuropil threads and astrocytic plaques.

PI Information