scholarly journals Easy and fast PCR‐based protocol allows characterization of breakpoints resulting from Alu / Alu ‐mediated genomic rearrangements

2021 ◽  
Author(s):  
Filip Majer ◽  
Jakub Sikora
Keyword(s):  
Genomic Rearrangements

scholarly journals Identification and characterization of large-scale genomic rearrangements during wheat evolution

PLoS ONE ◽  
2020 ◽  
Vol 15 (4) ◽  
pp. e0231323 ◽  
Author(s):  
Inbar Bariah ◽  
Danielle Keidar-Friedman ◽  
Khalil Kashkush
Keyword(s):  
Large Scale ◽  
Genomic Rearrangements ◽  
Wheat Evolution ◽  
Identification And Characterization

scholarly journals Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

2001 ◽  
Vol 46 (10) ◽  
pp. 572-578 ◽  
Author(s):  
I. Yuasa ◽  
H. Nakamura ◽  
L. Henke ◽  
J. Henke ◽  
M. Nakagawa ◽  
...  
Keyword(s):  
Genomic Rearrangements ◽  
Acid Glycoprotein ◽  
Orosomucoid Gene

scholarly journals Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes

2009 ◽  
Vol 122 (3) ◽  
pp. 733-743 ◽  
Author(s):  
Jesús del Valle ◽  
Lídia Feliubadaló ◽  
Marga Nadal ◽  
Alex Teulé ◽  
Rosa Miró ◽  
...  
Keyword(s):  
Genomic Rearrangements ◽  
Brca1 And Brca2 ◽  
Large Genomic Rearrangements ◽  
Brca1 And Brca2 Genes ◽  
Comprehensive Characterization

Frequent genomic rearrangements of BRCA1 associated protein-1 (BAP1) gene in Japanese malignant mesothelioma—characterization of deletions at exon level

2015 ◽  
Vol 60 (10) ◽  
pp. 647-649 ◽  
Author(s):  
Mitsuru Emi ◽  
Yoshie Yoshikawa ◽  
Chika Sato ◽  
Ayuko Sato ◽  
Hidenori Sato ◽  
...  
Keyword(s):  
Malignant Mesothelioma ◽  
Genomic Rearrangements ◽  
Exon Level

scholarly journals Characterization of novel, recurrent genomic rearrangements as sensitive MRD targets in childhood B-cell precursor ALL

2019 ◽  
Vol 9 (12) ◽  
Author(s):  
Udo zur Stadt ◽  
Malik Alawi ◽  
Manuela Adao ◽  
Daniela Indenbirken ◽  
Gabriele Escherich ◽  
...  
Keyword(s):  
B Cell ◽  
Quantitative Measurement ◽  
High Throughput Sequencing ◽  
Residual Disease ◽  
Genomic Rearrangements ◽  
Cell Precursor ◽  
Childhood All ◽  
Leukemic Clone ◽  
Minimal Residual

AbstractB-cell precursor (BCP) ALL carry a variety of classical V(D)J rearrangements as well as genomic fusions and translocations. Here, we assessed the value of genomic capture high-throughput sequencing (gc-HTS) in BCP ALL (n = 183) for the identification and implementation of targets for minimal residual disease (MRD) testing. For TRδ, a total of 300 clonal rearrangements were detected in 158 of 183 samples (86%). Beside clonal Vδ2-Dδ3, Dδ2-Dδ3, and Vδ2-Jα we identified a novel group of recurrent Dδ-Jα rearrangements, comprising Dδ2 or Dδ3 segments fused predominantly to Jα29. For IGH-JH, 329 clonal rearrangements were identified in 172 of 183 samples (94%) including novel types of V(D)J joining. Oligoclonality was found in ~1/3 (n = 57/183) of ALL samples. Genomic breakpoints were identified in 71 BCP-ALL. A distinct MRD high-risk subgroup of IGH-V(D)J-germline ALL revealed frequent deletions of IKZF1 (n = 7/11) and the presence of genomic fusions (n = 10/11). Quantitative measurement using genomic fusion breakpoints achieved equivalent results compared to conventional V(D)J-based MRD testing and could be advantageous upon persistence of a leukemic clone. Taken together, selective gc-HTS expands the spectrum of suitable MRD targets and allows for the identification of genomic fusions relevant to risk and treatment stratification in childhood ALL.

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