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“Hole” Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
Pediatric NeurologyWhole exome sequencing (WES) is commonly used for patients with nonspecific clinical features and conditions with genetic heterogeneity. However, a nondiagnostic exome does not exclude a genetic diagnosis, so history and physical examination is crucial to selecting appropriate genetic testing.We report three patients with three recognizable phenotypes:
R Colin, McNamara +4 more
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Short Read Mapping for Exome Sequencing
2013Mapping short reads to the reference genome is very often the prerequisite for applications utilizing the next-generation sequencing technologies. A dozen of software tools developed for this purpose have been widely used. But many practical issues remained when utilizing them to build a computational pipeline for downstream analyses.
Zhang, X +4 more
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Exome Sequencing Comes to the Clinic
JAMA, 2015Vincent Pieterse was so eager to enter the world on December 16, 2002, that he couldn’t wait for the hospital. His startled father, Marc, delivered the boy in the family’s home in a small village in the southernNetherlands.Vincent seemed healthy as a baby, but at school he acquired labelsofnonverbal learningdisabilityandmildautism.Byage8,his ...
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Exomic sequencing in cortical malformations
Current Opinion in Biotechnology, 2011openaire +3 more sources