Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci-Reference-Cited by-同舟云学术

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Published:2024-07 Issue:7 Volume:4 Page:100590
ISSN:2666-979X
Container-title:Cell Genomics
language:en
Short-container-title:Cell Genomics

Author:

Grochowski Christopher M.^ORCID,Bengtsson Jesse D.,Du Haowei^ORCID,Gandhi Mira,Lun Ming Yin,Mehaffey Michele G.,Park KyungHee,Höps Wolfram,Benito Eva,Hasenfeld Patrick,Korbel Jan O.,Mahmoud Medhat^ORCID,Paulin Luis F.^ORCID,Jhangiani Shalini N.,Hwang James Paul,Bhamidipati Sravya V.,Muzny Donna M.,Fatih Jawid M.,Gibbs Richard A.,Pendleton Matthew^ORCID,Harrington Eoghan,Juul Sissel,Lindstrand Anna^ORCID,Sedlazeck Fritz J.^ORCID,Pehlivan Davut^ORCID,Lupski James R.^ORCID,Carvalho Claudia M.B.^ORCID

Publisher

Elsevier BV

Reference74 articles.

1. Mechanisms underlying structural variant formation in genomic disorders;Carvalho;Nat. Rev. Genet.,2016

2. Complex chromosomal rearrangements: origin and meiotic behavior;Pellestor;Hum. Reprod. Update,2011

3. Mechanisms for recurrent and complex human genomic rearrangements;Liu;Curr. Opin. Genet. Dev.,2012

4. Complex genomic rearrangements: an underestimated cause of rare diseases;Schuy;Trends Genet.,2022

5. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome;Carvalho;Nat. Genet.,2011

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