| Field |
Value |
| Identifier |
nemo:dat-rhocguc |
| Dataset Name |
Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms |
| Version |
NA |
| Release Date |
NA |
| DOI |
NA |
| Source Data URL |
This is a restricted access dataset. Instructions for requesting access are available at https://nemoarchive.org/resources/accessing-controlled-access-data.php |
| Dataset Collection URL |
https://data.nemoarchive.org/publication_release/Patowary_delaTorre_scisorseq_2024.tgz |
| Description |
RNA splicing is highly prevalent in the brain and has strong links to neuropsychiatric disorders, yet the role of cell-type-specific splicing or transcript-isoform diversity during human brain development has not been systematically investigated. Here, we leveraged single-molecule long-read sequencing to deeply profile the full-length transcriptome of the germinal zone (GZ) and cortical plate (CP) regions of the developing human neocortex at tissue and single-cell resolution. We identified 214,516 unique isoforms, of which 72.6% are novel (not annotated in Gencode-v33), and uncovered a substantial contribution of transcript-isoform diversity, regulated by RNA binding proteins, in defining cellular identity in the developing neocortex. We leveraged this comprehensive isoform-centric gene annotation to re-prioritize thousands of rare de novo risk variants and elucidate genetic risk mechanisms for neuropsychiatric disorders. |
| Keywords |
neocortex, long read sequencing, single cell, isoform switching; RNA binding protein |
| Total Files in Collection |
7 |
| Total Size in Collection (in GB) |
95.6 |
| Authors |
Ashok Patowary, Pan Zhang, Connor Jops, Celine K. Vuong, Xinzhu Ge, Kangcheng Hou, Minsoo Kim, Naihua Gong, Michael Margolis, Daniel Vo, Xusheng Wang, Chunyu Liu, Bogdan Pasaniuc, Jingyi Jessica Li, Michael J. Gandal, Luis de la Torre-Ubieta |
| Organization |
University of California, Los Angeles, CA |
| Contact Person |
Ashok Patowary; Michael J. Gandal; Luis de la Torre-Ubieta |
| Contact E-Mail |
ashokpatowary@g.ucla.edu; ldelatorreubieta@mednet.ucla.edu; michael.gandal@pennmedicine.upenn.edu |
| External Identifier |
https://doi.org/10.1101/2023.03.25.534016 |
| Grant Name |
R01MH124018 |
| Consortium |
BICCN |
| Data Repository |
NeMO |
| Data Repository RRID |
RRID:SCR_016152 |
| Data License |
Public data available under CC BY 4.0; controlled access data subject to data use certification |
| Data Access |
https://biccn.org/terms-of-use |
| Community Standards |
https://biccn.org/standards |
| Study Organism |
human |
| Protocol ID |
NA |
