PredWES is a tool for calculating the probability of positive results in exome sequencing studies based on clinical findings. It can be used for evidence-based decision making when requesting genetic studies. Indications for performing NGS sequencing:
Category archives: Complementary investigations
Epilepsioma. Genetics in epilepsy.
The ILAE commission for genetics in epilepsy has a blog called Beyond the Ion Channel, with reviews on the different genes involved in epilepsy: The Epilepsiome.
Human Phenotype Ontology
Currently, the use of computerized tools for information search makes it necessary to use standardized and coded nomenclature to refer to the dysmorphic signs that are part of the clinical phenotype. A significant effort has been made to systematize this nomenclature, adding an HPO code that can be searched on the Human … website.
Decipher Genome Browser
Method of use: In your comparative genomic hybridization array report, there will be a table with the CNVs identified in the patient. In each CNV, the chromosome on which it is located will be identified, as well as the start and end nucleotide positions (usually numbers on the order of a million …
Phenomyzer
Phenomyzer is a phenotyping tool from Charité Universitätsmedizin Berlin.
Neonatal MRI
M. Rutherford's neonatal MRI book is accessible on the web for free, being an indispensable guide for the diagnosis and learning of neonatal neurology.