Parallel mutation testing

2012 ◽  
Vol 23 (4) ◽  
pp. 315-350 ◽  
Author(s):  
Pedro Reales Mateo ◽  
Macario Polo Usaola
Keyword(s):  
Mutation Testing ◽  
Parallel Mutation

scholarly journals EMINENT: Embarrassingly Parallel Mutation Testing

2016 ◽  
Vol 80 ◽  
pp. 63-73 ◽  
Author(s):  
Pablo C. Cañizares ◽  
Mercedes G. Merayo ◽  
Alberto Núñez
Keyword(s):  
Mutation Testing ◽  
Parallel Mutation

scholarly journals MAESTRO affords ‘breadth and depth’ for mutation testing

2021 ◽  
Author(s):  
Gregory Gydush ◽  
Erica Nguyen ◽  
Jin H. Bae ◽  
Justin Rhoades ◽  
Sarah C. Reed ◽  
...  
Keyword(s):  
Residual Disease ◽  
Low Frequency ◽  
Mutation Testing ◽  
Liquid Biopsies ◽  
Cancer Genome Sequencing ◽  
Large Numbers ◽  
Powerful Approach ◽  
Sequencing Studies ◽  
Duplex Sequencing ◽  
Parallel Mutation

AbstractThe ability to assay large numbers of low-abundance mutations is crucial in biomedicine. Yet, the technical hurdles of sequencing multiple mutations at extremely high depth and accuracy remain daunting. For sequencing low-level mutations, it’s either ‘depth or breadth’ but not both. Here, we report a simple and powerful approach to accurately track thousands of distinct mutations with minimal reads. Our technique called MAESTRO (minor allele enriched sequencing through recognition oligonucleotides) employs massively-parallel mutation enrichment to empower duplex sequencing—one of the most accurate methods—to track up to 10,000 low-frequency mutations with up to 100-fold less sequencing. In example use cases, we show that MAESTRO could enable mutation validation from cancer genome sequencing studies. We also show that it could track thousands of mutations from a patient’s tumor in cell-free DNA, which may improve detection of minimal residual disease from liquid biopsies. In all, MAESTRO improves the breadth, depth, accuracy, and efficiency of mutation testing.

DNA damage repair gene mutation testing and genetic counseling in men with/without prostate cancer: a systematic review

2020 ◽  
Author(s):  
Nigel Armstrong ◽  
Ruben GW Quek ◽  
Steve Ryder ◽  
Janine Ross ◽  
Titas Buksnys ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Systematic Review ◽  
At Risk ◽  
Dna Damage ◽  
Clinical Trials ◽  
Genetic Counseling ◽  
Mutation Screening ◽  
Dna Damage Repair ◽  
Mutation Testing ◽  
Damage Repair

Background: Ongoing clinical trials are investigating poly(ADP-ribose) polymerase (PARP) inhibitors to target the DNA damage repair (DDR) pathway in prostate cancer. DDR mutation screening will guide treatment strategy and assess eligibility for clinical trials. Materials & methods: This systematic review estimated the rate of DDR mutation testing or genetic counseling among men with or at risk of prostate cancer. Results: From 6856 records, one study fulfilled the inclusion criteria and described men undiagnosed with prostate cancer with a family history of BRCA1/2 mutation who received DDR mutation testing. Conclusion: With only one study included in this first systematic review of DDR mutation testing or genetic counseling in men with or at risk of prostate cancer, more research is warranted.

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