bioRxivBioinformaticsPreprint
Impact of genetic variations on the human brain: when and where?
Abstract
Genetic studies have found candidates in most of neurological and psychiatric conditions. However, it remains challenging to assess, in which brain region, and when in the brain development, a mutation is more likely to have an impact, especially for intergenic loci. Here we present, BRAVA, a publicly available resource for estimating genetic mutations spatio-temporal context on the human brain. Different contexts were observed for schizophrenia associated loci, suggesting both neurodevelopmental and late onset components.
- organism: human
- assay: bulk RNA-seq
- research focus: gene regulatory network inference
- approach: statistical model
- Citations
- 0
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Genetic map of regional sulcal morphology in the human brain
Benjamin B. Sun, Stephanie J. Loomis, … Christopher D. Whelan·bioRxiv·Oct 13, 2021
- The genetic architecture of the human cerebral cortex
Katrina L. Grasby, Neda Jahanshad, … Yuri Milaneschi·SciencePeer-reviewed·Mar 19, 2020
- The genetic architecture of human brainstem structures and their involvement in common brain disorders
Torbjørn Elvsåshagen, Shahram Bahrami, … Tobias Kaufmann·Nature CommunicationsPeer-reviewed·Aug 11, 2020
- Mapping the genetic evolutionary timeline of human neural and cognitive traits
Ilan Libedinsky, Yongbin Wei, … Martijn P. van den Heuvel·bioRxiv·Feb 5, 2023
- Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain
Cindy H. Wen, Michael P. Margolis, … Michael J. Gandal·medRxiv·Mar 3, 2023
- Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites
Eduardo A. Maury, Attila Jones, … Andrew J. Chess·bioRxiv·Feb 23, 2022