Building bridges between genetics and clinical practice, with a Latino twist
- Centro de Genética y Genómica, Universidad del Desarrollo
- Santiago, Chile
- eduardoperez@udd.cl
- @EdoPerezP
Popular repositories Loading
- PERs
PERs PublicForked from dlal-group/PERs
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- Simple-ClinVar
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Shiny ClinVar web server source code
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- CNV-analysis-from-SNP-arrays
CNV-analysis-from-SNP-arrays PublicCNVs-study-from-SNPs-arrays describes a workflow to detect and analyze CNVs out of large scale microarray-based genotype data.
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- SCN1A-Epilepsy-Prediction-Model
SCN1A-Epilepsy-Prediction-Model PublicR Pipeline from Brunklaus et al, 2021 paper entitled "Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-related Epilepsies"
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