Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing

2020 ◽  
Vol 85 (1) ◽  
pp. 18-26
Author(s):  
Darine Villela ◽  
Juliana Sobral Barros ◽  
Silvia Souza da Costa ◽  
Talita F. M. Aguiar ◽  
Francine Campagnari ◽  
...  
Keyword(s):  
Targeted Sequencing ◽  
Chromosome Imbalances

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting

2017 ◽  
Vol 60 (12) ◽  
pp. 667-674 ◽  
Author(s):  
Darine Villela ◽  
Silvia Souza Costa ◽  
Angela M. Vianna-Morgante ◽  
Ana C.V. Krepischi ◽  
Carla Rosenberg
Keyword(s):  
Clinical Setting ◽  
Targeted Sequencing ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Efficient Detection ◽  
Chromosome Imbalances

scholarly journals Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide

2018 ◽  
Vol 28 (11) ◽  
pp. 251-255 ◽  
Author(s):  
Sonal Singh ◽  
Zhiying Wang ◽  
Mohamed H. Shahin ◽  
Taimour Y. Langaee ◽  
Yan Gong ◽  
...  
Keyword(s):  
Missense Variant ◽  
Targeted Sequencing ◽  
Antihypertensive Response

Mapping leprosy‐associated coding variants of interleukin genes by targeted sequencing

2021 ◽  
Author(s):  
Deng‐Feng Zhang ◽  
Hui‐Long Li ◽  
Quanzhen Zheng ◽  
Rui Bi ◽  
Min Xu ◽  
...  
Keyword(s):  
Targeted Sequencing ◽  
Coding Variants

scholarly journals Comparison of whole genome sequencing and targeted sequencing for Mitochondrial DNA

Mitochondrion ◽  
2021 ◽  
Author(s):  
Ruoying Chen ◽  
Micheala A Aldred ◽  
Weiling Xu ◽  
Joe Zein ◽  
Peter Bazeley ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Targeted Sequencing ◽  
Whole Genome

scholarly journals Targeted sequencing supports morphology and embryo features in resolving the classification of Cyperaceae tribe Fuireneae s.l.

2021 ◽  
Author(s):  
Julian R. Starr ◽  
Pedro Jiménez‐Mejías ◽  
Alexandre R. Zuntini ◽  
Étienne Léveillé‐Bourret ◽  
Ilias Semmouri ◽  
...  
Keyword(s):  
Targeted Sequencing

scholarly journals Genetic Characterization and Clinical Features of Helicobacter pylori Negative Gastric Mucosa-Associated Lymphoid Tissue Lymphoma

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2993
Author(s):  
Barbara Kiesewetter ◽  
Christiane Copie-Bergman ◽  
Michael Levy ◽  
Fangtian Wu ◽  
Jehan Dupuis ◽  
...  
Keyword(s):  
Gastric Mucosa ◽  
Signaling Pathways ◽  
Clinical Features ◽  
Malt Lymphoma ◽  
Lymphoid Tissue ◽  
Targeted Sequencing ◽  
Clinicopathological Parameters ◽  
Gastric Malt Lymphoma ◽  
Genetic Changes ◽  
H Pylori

Background: In Western countries, the prevalence of gastric mucosa-associated lymphoid tissue (MALT) lymphoma has declined over the last three decades. Contemporaneously, H. pylori negative gastric MALT lymphoma is increasingly encountered, and their genetic basis and clinical features remain elusive. Methods: A total of 57 cases of H. pylori negative gastric MALT lymphoma were reviewed and investigated for chromosome translocation by fluorescence in-situ hybridization and for somatic mutations by the targeted sequencing of 93 genes. Results: MALT1 translocation, most likely t(11;18)(q21;q21)/BIRC3-MALT1, was detected in 39% (22/57) cases, and IGH translocation was further seen in 12 MALT1-negative cases, together accounting for 60% of the cohort. Targeted sequencing was successful in 35 cases, and showed frequent mutations in NF-κB signaling pathways (TNFAIP3 = 23%, CARD11 = 9%, MAP3K14 = 9%), together affecting 14 cases (40%). The NF-κB pathway mutations were mutually exclusive from MALT1, albeit not IGH translocation, altogether occurring in 86% of cases. There was no significant correlation between the genetic changes and clinicopathological parameters. The patients showed a median of progression-free survival (PFS) of 66.3 months, and a significant superior PFS when treated with systemic versus antibiotic therapy (p = 0.004). Conclusion: H. pylori negative gastric MALT lymphoma is characterized by highly frequent genetic changes in the NF-κB signaling pathways.

scholarly journals Targeted sequencing reveals candidate causal variants for dairy bull subfertility

2021 ◽  
Author(s):  
R. Abdollahi‐Arpanahi ◽  
H. A. Pacheco ◽  
F. Peñagaricano
Keyword(s):  
Targeted Sequencing ◽  
Causal Variants ◽  
Dairy Bull
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