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Monastero Periodo perioperatorio Denuncia clinical variants database film guida fusione

InSiGHT variants databases - InSiGHT
InSiGHT variants databases - InSiGHT

CIViC is a community knowledgebase for expert crowdsourcing the clinical  interpretation of variants in cancer | Nature Genetics
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer | Nature Genetics

ACMG Implementation
ACMG Implementation

HuVarBase: A human variant database with comprehensive information at gene  and protein levels | PLOS ONE
HuVarBase: A human variant database with comprehensive information at gene and protein levels | PLOS ONE

ClinVar - ClinGen | Clinical Genome Resource
ClinVar - ClinGen | Clinical Genome Resource

Variation Viewer
Variation Viewer

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease -  Clinics in Laboratory Medicine
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
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
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
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
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
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
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
Using dbSNP and ClinVar to Classify Gene Variants

Frontiers | Workflow for the Implementation of Precision Genomics in  Healthcare | Genetics
Frontiers | Workflow for the Implementation of Precision Genomics in Healthcare | Genetics

Genetic Testing For Hereditary Disease | QIAGEN
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
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
DECIPHER v11.12: Mapping the clinical genome

Variation Viewer
Variation Viewer

About Us - ClinGen | Clinical Genome Resource
About Us - ClinGen | Clinical Genome Resource

The ClinVar variation report
The ClinVar variation report

A harmonized meta-knowledgebase of clinical interpretations of somatic  genomic variants in cancer | Nature Genetics
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer | Nature Genetics

Introduction to CIViC — CIViC documentation
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
Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome | American Society of Nephrology