The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Abstract Background The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen...

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Bibliographic Details
Main Authors: Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. Gibbs, Fritz J. Sedlazeck, James R. Lupski, Claudia M. B. Carvalho, Pengfei Liu
Format: Article
Language:English
Published: BMC 2022-10-01
Series:Genome Medicine
Subjects:
Long-read sequencing
Genomic data integration, Genomic data visualization, MMBIR
Genomic instability
Tandem duplication
De novo CNV
De novo SNV, Human Phenotype Ontology, Structural variation
Online Access:https://doi.org/10.1186/s13073-022-01123-w

Internet

https://doi.org/10.1186/s13073-022-01123-w

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