Pharmacogenetics in the Cancer Clinic: From Candidate Gene Studies to Next-Generation Sequencing

2014 ◽  
Vol 95 (4) ◽  
pp. 383-385 ◽  
Author(s):  
H-J Guchelaar ◽  
H Gelderblom ◽  
T van der Straaten ◽  
JHM Schellens ◽  
JJ Swen
Keyword(s):  
Next Generation Sequencing ◽  
Candidate Gene ◽  
Next Generation ◽  
Candidate Gene Studies ◽  
Generation Sequencing ◽  
Cancer Clinic

scholarly journals ATP-dependent Clp protease subunit C1, HvClpC1, is a strong candidate gene for barley variegation mutant luteostrians as revealed by genetic mapping and genomic re-sequencing

2021 ◽  
Author(s):  
Mingjiu Li ◽  
Ganggang Guo ◽  
Hélène Pidon ◽  
Michael Melzer ◽  
Alberto R. Prina ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Mapping ◽  
Candidate Gene ◽  
Gene Discovery ◽  
Plant Morphology ◽  
Mutation Breeding ◽  
Forward Genetics ◽  
Next Generation ◽  
Mapping By Sequencing ◽  
Generation Sequencing

AbstractImplementation of next-generation sequencing in forward genetic screens greatly accelerated gene discovery in species with larger genomes, including many crop plants. In barley, extensive mutant collections are available, however, the causative mutations for many of the genes remains largely unknown. Here we demonstrate how a combination of low-resolution genetic mapping, whole-genome resequencing and comparative functional analyses provides a promising path towards candidate identification of genes involved in plastid biology and / or photosynthesis, even if genes are located in recombination poor regions of the genome. As a proof of concept, we simulated the prediction of a candidate gene for the recently cloned variegation mutant albostrians (HvAST / HvCMF7) and adopted the approach for suggesting HvClpC1 as candidate gene for the yellow-green variegation mutant luteostrians.Author SummaryForward genetics is an approach of identifying a causal gene for a mutant phenotype and has proven to be a powerful tool for dissecting the genetic control of biological processes in many species. A large number of barley mutants was generated in the 1940s to 1970s when mutation breeding programs flourished. Genetic dissection of the causative mutations responsible for the phenotype, however, lagged far behind, limited by lack of molecular markers and high-throughput genotyping platforms. Next-generation sequencing technologies have revolutionized genomics, facilitating the process of identifying mutations underlying a phenotype of interest. Multiple mapping-by-sequencing or cloning-by-sequencing strategies were established towards fast gene discovery. In this study, we used mapping-by-sequencing to identify candidate genes within coarsely delimited genetic intervals, for two variegation mutants in barley – luteostrians and albostrians. After testing the approach using the example of the previously cloned albostrians gene HvAST, the gene HvClpC1 could be delimited as candidate gene for luteostrians. The mapping-by-sequencing strategy implemented here is generally suited for surveying barley mutant collections for phenotypes affecting fundamental processes of plant morphology, physiology and development.

Next generation sequencing using a candidate gene array for the diagnosis of uncharacterised inherited macrothrombocytopenias

Pathology ◽  
2015 ◽  
Vol 47 ◽  
pp. S92
Author(s):  
David Rabbolini ◽  
Marie-Christine Morel-Kopp ◽  
Sara Gabrielli ◽  
Walter Chen ◽  
Christopher Ward ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Candidate Gene ◽  
Gene Array ◽  
Next Generation ◽  
Generation Sequencing
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