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Mapping causal mutations by exome sequencing in a wheat TILLING population: a tall mutant case study
(Springer Heidelberg, 2018-04)
Forward genetic screens of induced mutant plant populations are powerful tools to identify genes underlying phenotypes of interest. Using traditional techniques, mapping causative mutations from forward screens is a lengthy, ...
O Uso do Sequenciamento Total do Exoma (WES) no Diagnóstico do Adenocarcinoma Ductal Pancreático
(Florianópolis, SC, 2022)
A global reference for human genetic variation
(Springer Nature, 2015)
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report ...
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach
(Public Library of Science, 2018-02)
Background Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called “diagnostic odysseys”. Previous studies have provided ...
Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis
(Taylor and Francis Online, 2021)
Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture
Whole exome sequencing (WES) is a widely used strategy for detection of protein coding and splicing variants associated with inherited diseases. Many studies have shown that the strategy has been broad and proficient due ...