An atlas of expressed transcripts in the prenatal and postnatal human cortex

Identifying novel disease transcripts is challenging when using short-read data, as there is limited ability to obtain full-length isoforms. Here the authors use nanopore sequencing to generate an atlas of full-length transcripts from prenatal and postnatal cortexes, identifying de novo mutations in genes that are linked to neurological conditions. This resource allows researchers to explore the molecular underpinnings of brain development and disease.

Authors: Rosemary A. Bamford, Szi Kay Leung, V. Kartik Chundru, Aaron R. Jeffries, Jonathan P. Davies, Alice Franklin, Xinmu Chen, Andrew McQuillin, Nicholas Bass, APEX consortium, Emma Walker, Paul O’Neill, Ehsan Pishva, Emma L. Dempster, Eilis Hannon, Caroline F. Wright, Jonathan Mill