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Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Objectives: To rescue medical genetics concepts that are necessary to understand the advances
in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation ...
Tracking genomic alterations in young patients with head and neck carcinomas using whole-exome sequencing
(Amer Assoc Cancer Research, 2015-08-01)
Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
(BioMed Central, 2017)
Abstract
Objectives
The understanding of complex multifactorial diseases requires the availability of a variety of data for a large-number of affected individuals. In this ...
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 ...
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, ...
GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases
(BioMed Central, 2018-01)
Background: GenIO is a novel web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies the most probable variants causing a ...
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 ...
Whole-Genome sequencing uncovers the genetic basis of chronic mountain sickness in andean highlanders
(Elsevier, 2013)
The hypoxic conditions at high altitudes present a challenge for survival, causing pressure for adaptation. Interestingly, many highaltitude denizens (particularly in the Andes) are maladapted, with a condition known as ...