Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Autor: C. F. Wright, E. Prigmore, D. Rajan, J. Handsaker, J. McRae, J. Kaplanis, T. W. Fitzgerald, D. R. FitzPatrick, H. V. Firth, M. E. Hurles
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-019-11059-2
Popis: Systematic analysis of postzygotic mosaicism (PZM) is difficult due to challenges in detecting such events. Here, Wright et al. analyse trio exome sequencing data from blood and saliva of 4,293 probands with developmental disorders from the DDD Study and estimate that >3% of causative de novo mutations result from PZM.
Databáze: Directory of Open Access Journals