human-variome-project documents

Visual Analytical Screening System for Disease Linked Gene Variants - Oyekanmi Nash
Science Visual Analytical Screening System for Disease Linked Gene Variants - Oyekanmi Nash
Attracting EC Funding - Diana Salmen
Science Attracting EC Funding - Diana Salmen
The Human Variome Database in Australia in 2014 - Graham Taylor
Science The Human Variome Database in Australia in 2014 - Graham Taylor
Linking Genomic and Clinical Data: The HVPA-BioGrid Experience
Science Linking Genomic and Clinical Data: The HVPA-BioGrid Experience
Human Genomics and Public Health in a Global World: Challenges for Low & Middle Income Countries
Science Human Genomics and Public Health in a Global World: Challenges for Low & Middle Income Countries
The Belgian HVP Node with attention to collaboration with DR Congo Node - Thomy JL de Ravel
Science The Belgian HVP Node with attention to collaboration with DR Congo Node - Thomy JL de Ravel
Phenotype terminologies in use for genotype-phenotype databases: a common core for standardisation and interoperability - Ana Rath
Science Phenotype terminologies in use for genotype-phenotype databases: a common core for standardisation and interoperability - Ana Rath
Development of rules for the interpretation of mismatch repair gene variants based on the 5-tiered IARC classification system - Maurizio Genuardi
Science Development of rules for the interpretation of mismatch repair gene variants based on the 5-tiered IARC classification system - Maurizio Genuardi
Progress of the InSiGHT Mismatch Repair Gene Database and Variant Interpretation Committee - Application of Classification Rules and Dissemination of Results - Finlay Macrae
Science Progress of the InSiGHT Mismatch Repair Gene Database and Variant Interpretation Committee - Application of Classification Rules and Dissemination of Results - Finlay Macrae
Setting Normative Function: Accreditation of G/DSDBs
Technology Setting Normative Function: Accreditation of G/DSDBs
A process for accreditation of HVP Country Nodes
Technology A process for accreditation of HVP Country Nodes
Genomics and World Health - Prof. Sir David Weatherall
Technology Genomics and World Health - Prof. Sir David Weatherall
Setting Normative Function: Describing Phenotype
Health & Medicine Setting Normative Function: Describing Phenotype
Global Alliance for Genomics & Health - Peter Goodhand
Science Global Alliance for Genomics & Health - Peter Goodhand
The Clinical Significance of Transcript Alignment Discrepancies … and tools to help you deal with them - Reece Hart
Science The Clinical Significance of Transcript Alignment Discrepancies … and tools to help you deal with them - Reece Hart
ClinGen: The Clinical Genome Resource - Heidi Rehm
Science ClinGen: The Clinical Genome Resource - Heidi Rehm
HVP5: Meeting summary and thoughts - Garry Cutting
Science HVP5: Meeting summary and thoughts - Garry Cutting
HVP Country Node Development Workshop
Documents HVP Country Node Development Workshop
Sharing Knowledge: Human Variome Project initiatives in education and skills development
Business Sharing Knowledge: Human Variome Project initiatives in education and skills development
The InSiGHT-Human Variome Project Collaboration - Finlay Macrae
Health & Medicine The InSiGHT-Human Variome Project Collaboration - Finlay Macrae
Setting Normative Function: Identification of areas where Standards and Guidelines are required
Health & Medicine Setting Normative Function: Identification of areas where Standards and Guidelines are required