David Miller, PacBio VP of product marketing, highlighted the company’s partnerships, including with Hamilton, Miroculus, the Broad Institute, Twist Biosciences, Google Health, DNAnexus, and DNAstack, for various companion offerings to enhance its sequencing workflow.
Publication in Cell on the genomic architecture of autism from comprehensive genomic analysis of over 11,000 individuals.
Viral AI democratizes access to software for genomic surveillance and infectious disease research- Dr. Marc Fiume, CEO at DNAstack
Autism is complex and our research has demonstrated the value of connecting massive datasets to help us uncover critical genetic insights- Dr. Stephen Scherer, Director of TCAG at SickKids
The Connection Demos are an enormous success for the members of the GA4GH- Ewan Birney, Chair of GA4GH
The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model—“registered access”—to increase and improve access to data requiring an agreement to basic terms and conditions, such as the use of DNA sequence and health data in research.
The volume of genomics and health data is growing rapidly, driven by sequencing for both research and clinical use.
Data Sharing as a National Quality Improvement Program: Reporting on BRCA1 and BRCA2 Variant-Interpretation Comparisons Through the Canadian Open Genetics Repository (COGR)
The purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.
Early data-sharing efforts have led to improved variant interpretation and development of treatments for rare diseases and some cancer types.
The Can-Share program seeks to build policies and data tools to share data among Canadian research institutions and with international partners.
Through its Data Working Group, GA4GH wants to replace many existing standards, conventions, and file formats with new ones that will scale to searching through genomes at the level of whole populations ― and, crucially, make it easier for separate organizations to share data.