Sharing Knowledge: Human Variome Project initiatives in education and skills...
Sharing Knowledge is one of the four key themes underlying Project Roadmap 2012-2016, the Human Variome Project’s strategic plan for the next five years and a focus for this meeting. This session...
View ArticleSetting Normative Function: Accreditation of G/DSDBs
The accreditation of gene/disease specific databases has often been raised as an area of action for the Human Variome Project. This session of the 4th Biennial Meeting of the Human Variome Project...
View ArticleMseqDR consortium: a grass-roots effort to establish a global resource aimed...
The success of whole exome sequencing (WES) for highly heterogeneous disorders, such as mitochondrial disease, is limited by substantial technical and bioinformatics challenges to correctly identify...
View ArticleThe Curation of Molecular Pathology Cancer Samples - Kenneth Doig
Cancer researchers routinely use High Throughput Sequencing (HTS), but its uptake into the clinical environment has been slow, mainly because of sequencing costs and the complexity of data analysis....
View ArticleThe Human Variome Database in Australia in 2014 - Graham Taylor
There are a number of genetics and genomics initiatives underway in Australia, including the Australian node of the Human Variome Project (HVPA), as well as many active research collaborations...
View ArticleProgress of the InSiGHT Mismatch Repair Gene Database and Variant...
Locus-specific databases (LSDBs) which accept submissions of variants and their interpretation from diagnostic and research laboratories are subject to problems of duplicate entries, limited...
View ArticleVisual Analytical Screening System for Disease Linked Gene Variants -...
Background: The major bottleneck in genome sequencing is no longer data generation, but the computational challenges around data analysis, display and integration. New approaches and methods are,...
View ArticleDevelopment of rules for the interpretation of mismatch repair gene variants...
The International Society for Gastrointestinal Hereditary Tumors (InSIGHT) has established a committee (Variant Interpretation Committee; VIC) for the interpretation of sequence variants in the...
View ArticleClinGen: The Clinical Genome Resource - Heidi Rehm
Recently, three NIH-funded efforts were aligned with the National Center for Biotechnology Information’s (NCBI) ClinVar database under the collaborative Clinical Genome Resource Program (ClinGen -...
View ArticlePhenotype terminologies in use for genotype-phenotype databases: a common...
The community needs to be provided with terminology standards in order to achieve interoperability between databases intended for clinical research and including description of phenotypes. This is...
View ArticleClinVar: A Central Repository for Clinically Relevant Variants - Melissa J...
Thousands of new variants are being identified thanks to advances in sequencing technologies. However, much of the data are stored in separate and sometimes private databases and so may be difficult...
View ArticleAttracting EC Funding - Diana Salmen
An overview of opportunities for funding support through the European Union’s Horizon 2020 program.
View ArticleCafe Variome: connecting diagnostic networks, disease consortia and diverse...
The Cafe Variome approach changes the nature of the problem, by converting it to the challenge of enabling fully open and comprehensive “data discovery” (i.e., making the existence rather than the...
View ArticleGlobal Alliance for Genomics & Health - Peter Goodhand
An overview of the newly formed Global Alliance for Genomics and Health (GA4GH)
View ArticleLinking Genomic and Clinical Data: The HVPA-BioGrid Experience
The Australian node of the Human Variome Project (HVPA) has established systems and processes for capturing, curating, interpreting and sharing genetic variant information for diagnostic, treatment...
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