Mapping recurrent mosaic copy number variation in human neurons

Kathuria, Kunal; Emery, Sarah B.; Kim, ByungJun; Breuss, Martin W.; Yang, Xiaoxu; Antaki, Danny; Chung, Changuk; Averbuj, Dan; Ball, Laurel L.; Roy, Subhojit; Mathern, Gary; Lee, Alice; Huang, August Yue; D'Gama, Alissa; Dias, Caroline; et. al.

Abstract

Single cell genome sequencing approaches have identified somatic copy number variants (CNVs) in human neurons, but small sample sizes (<100 neurons) have limited the power to find recurrent patterns such as CNV hotspots in a single individual. Here, the authors develop an approach to map CNVs in 2097 neurons from a neurotypical individual, finding that >10% neurons contain at least one somatic CNV, and enabling deeper investigation of these events.

Más información

Título según WOS: Mapping recurrent mosaic copy number variation in human neurons
Título según SCOPUS: Mapping recurrent mosaic copy number variation in human neurons
Título de la Revista: Nature Communications
Volumen: 15
Número: 1
Editorial: Nature Research
Fecha de publicación: 2024
Idioma: English
DOI:

10.1038/s41467-024-48392-0

Notas: ISI, SCOPUS