相似文献
1
Absence of heterozygosity due to template switching during replicative rearrangements.
Am J Hum Genet. 2015 Apr 2;96(4):555-64. doi: 10.1016/j.ajhg.2015.01.021. Epub 2015 Mar 19.
2
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Eur J Hum Genet. 2015 Jan;23(1):61-6. doi: 10.1038/ejhg.2014.53. Epub 2014 Apr 9.
3
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Genome Med. 2019 Apr 23;11(1):25. doi: 10.1186/s13073-019-0633-y.
4
Replicative mechanisms for CNV formation are error prone.
Nat Genet. 2013 Nov;45(11):1319-26. doi: 10.1038/ng.2768. Epub 2013 Sep 22.
5
A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.
Mol Cytogenet. 2017 Apr 28;10:15. doi: 10.1186/s13039-017-0316-6. eCollection 2017.
6
Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.
Genet Med. 2013 Sep;15(9):706-12. doi: 10.1038/gim.2013.36. Epub 2013 Apr 4.
7
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Genome Med. 2019 Dec 9;11(1):80. doi: 10.1186/s13073-019-0676-0.
8
Array-Based Comparative Genomic Hybridization (aCGH).
Methods Mol Biol. 2017;1541:167-179. doi: 10.1007/978-1-4939-6703-2_15.
9
The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.
Biol Cell. 2011 Jul;103(7):303-17. doi: 10.1042/BC20110013.
10
Frequent occurrence of uniparental disomy in colorectal cancer.
Carcinogenesis. 2007 Jan;28(1):38-48. doi: 10.1093/carcin/bgl086. Epub 2006 Jun 13.
引用本文的文献
1
Mechanisms and genomic implications of break-induced replication.
Nat Struct Mol Biol. 2025 Aug 22. doi: 10.1038/s41594-025-01644-z.
2
A retrospective single center analysis of fetuses with region of homozygosity detected by single nucleotide polymorphism array.
Sci Rep. 2025 Apr 19;15(1):13623. doi: 10.1038/s41598-025-98497-9.
3
VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.
bioRxiv. 2024 Oct 29:2024.10.27.620363. doi: 10.1101/2024.10.27.620363.
4
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.
Cell Genom. 2024 Jul 10;4(7):100590. doi: 10.1016/j.xgen.2024.100590. Epub 2024 Jun 21.
5
Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.
BMC Genomics. 2024 May 14;25(1):470. doi: 10.1186/s12864-024-10400-4.
6
Complex genomic rearrangements: an underestimated cause of rare diseases.
Trends Genet. 2022 Nov;38(11):1134-1146. doi: 10.1016/j.tig.2022.06.003. Epub 2022 Jul 9.
7
Clan genomics: From OMIM phenotypic traits to genes and biology.
Am J Med Genet A. 2021 Nov;185(11):3294-3313. doi: 10.1002/ajmg.a.62434. Epub 2021 Aug 18.
8
Cancer cells are highly susceptible to accumulation of templated insertions linked to MMBIR.
Nucleic Acids Res. 2021 Sep 7;49(15):8714-8731. doi: 10.1093/nar/gkab685.
9
Clinical significance and mechanisms associated with segmental UPD.
Mol Cytogenet. 2021 Jul 20;14(1):38. doi: 10.1186/s13039-021-00555-0.
10
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
Genet Med. 2021 Jul;23(7):1225-1233. doi: 10.1038/s41436-021-01128-7. Epub 2021 Mar 26.
本文引用的文献
1
Molecular findings among patients referred for clinical whole-exome sequencing.
JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.
2
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Eur J Hum Genet. 2015 Jan;23(1):61-6. doi: 10.1038/ejhg.2014.53. Epub 2014 Apr 9.
3
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Am J Hum Genet. 2014 Mar 6;94(3):462-9. doi: 10.1016/j.ajhg.2014.01.017. Epub 2014 Feb 13.
4
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Eur J Hum Genet. 2014 Sep;22(9):1071-6. doi: 10.1038/ejhg.2013.302. Epub 2014 Jan 15.
5
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
Genome Res. 2014 Apr;24(4):673-87. doi: 10.1101/gr.160465.113. Epub 2013 Dec 19.
6
Break-induced replication repair of damaged forks induces genomic duplications in human cells.
Science. 2014 Jan 3;343(6166):88-91. doi: 10.1126/science.1243211. Epub 2013 Dec 5.
7
Replicative mechanisms for CNV formation are error prone.
Nat Genet. 2013 Nov;45(11):1319-26. doi: 10.1038/ng.2768. Epub 2013 Sep 22.
8
Pif1 helicase and Polδ promote recombination-coupled DNA synthesis via bubble migration.
Nature. 2013 Oct 17;502(7471):393-6. doi: 10.1038/nature12585. Epub 2013 Sep 11.
9
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
Am J Med Genet A. 2013 Aug;161A(8):1904-9. doi: 10.1002/ajmg.a.36026. Epub 2013 Jul 4.
10
Break-induced replication: functions and molecular mechanism.
Curr Opin Genet Dev. 2013 Jun;23(3):271-9. doi: 10.1016/j.gde.2013.05.007. Epub 2013 Jun 18.
Zotero 插件