The NeuroBioBank whole-genome catalogue of human brain donors with central nervous system disorders - PubMed
6 days ago
- #biobank
- #genomics
- #neurological-disease
- The NeuroBioBank whole-genome catalogue includes 9,663 donors with array-based genotyping and 9,543 with whole-genome sequencing.
- The cohort consists of 9,663 donors with 148 CNS diseases categorized into 15 broad ICD-10 groups.
- Donors were collected by six NIH NeuroBioBank repositories, averaging 60 years in age, with diverse backgrounds.
- The study identified 171,121,209 unique variants and 1,078,774 non-silent variants through WGS.
- Data is available via the NIMH Data Archive and NeuroBioBank Portal, including deep demographic and phenotypic data.
- The study replicated known genetic associations, such as HTT gene expansions with Huntington's disease and APOE with Alzheimer's.
- Polygenic risk scores were examined for the three most common diseases in the cohort.