Monastero Periodo perioperatorio Denuncia clinical variants database film guida fusione
InSiGHT variants databases - InSiGHT
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer | Nature Genetics
ACMG Implementation
HuVarBase: A human variant database with comprehensive information at gene and protein levels | PLOS ONE
ClinVar - ClinGen | Clinical Genome Resource
Variation Viewer
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease - Clinics in Laboratory Medicine
Resources for Population CNV Data: Database of Genomic Variants (DGV) - ClinGen | Clinical Genome Resource
Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants | Genome Medicine | Full Text
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting | SpringerLink
Variant Harmonization Process Overview Pre-launch and post-launch... | Download Scientific Diagram
Technical desiderata for the integration of genomic data with clinical decision support - ScienceDirect
Standardized decision support in next generation sequencing reports of somatic cancer variants - Dienstmann - 2014 - Molecular Oncology - Wiley Online Library
Using dbSNP and ClinVar to Classify Gene Variants
Frontiers | Workflow for the Implementation of Precision Genomics in Healthcare | Genetics
Genetic Testing For Hereditary Disease | QIAGEN
CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking
DECIPHER v11.12: Mapping the clinical genome
Variation Viewer
About Us - ClinGen | Clinical Genome Resource
The ClinVar variation report
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer | Nature Genetics
Introduction to CIViC — CIViC documentation
Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome | American Society of Nephrology