Prajna hebbar

Abstract NOTCH2NL (NOTCH2-N-terminus-like) genes arose from ape-specific chromosome 1 segmental duplications implicated in human brain cortical expansion, including an incomplete NOTCH2 gene. Genetic characterization of these loci and their regulation is complicated because they are embedded in large, nearly identical duplications that predispose to recurrent microdeletion syndromes.

and the Human Pangenome Reference Consortium3 1UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California 95060, USA; 2Google Incorporated, Mountain View, California 94043, USA; 4Center for Genomic Discovery, Mohammed Bin Rashid University, Dubai Health, P.O. Box 505055, UAE; 5Dubai Health Genomic Medicine Center, Dubai Health, P.O. Box 505055, UAE; 6McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; 7European Molecular...

and the Human Pangenome Reference Consortium3 1UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California 95060, USA; 2Google Incorporated, Mountain View, California 94043, USA Corresponding authors: awcarroll{at}google.com, bpaten{at}ucsc.edu, shafin{at}google.com Footnotes ↵3 A complete list of the HPGC authors appears at the end of this paper. [Supplemental material is available for this article.] Article published online before print.