Marc Fiume
YOU?
Author Swipe
View article: The Canadian VirusSeq Data Portal and Duotang: open resources for SARS-CoV-2 viral sequences and genomic epidemiology
The Canadian VirusSeq Data Portal and Duotang: open resources for SARS-CoV-2 viral sequences and genomic epidemiology Open
The COVID-19 pandemic led to a large global effort to sequence SARS-CoV-2 genomes from patient samples to track viral evolution and inform the public health response. Millions of SARS-CoV-2 genome sequences have been deposited in global pu…
View article: Genomic architecture of autism from comprehensive whole-genome sequence annotation
Genomic architecture of autism from comprehensive whole-genome sequence annotation Open
View article: Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation Open
Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires whole-genome sequencing (WGS), which theoretically allows the detection of all types of genetic variants. With the aim of generating an unprecedent…
View article: International federation of genomic medicine databases using GA4GH standards
International federation of genomic medicine databases using GA4GH standards Open
View article: GA4GH: International policies and standards for data sharing across genomic research and healthcare
GA4GH: International policies and standards for data sharing across genomic research and healthcare Open
View article: Publisher Correction: Federated discovery and sharing of genomic data using Beacons
Publisher Correction: Federated discovery and sharing of genomic data using Beacons Open
View article: Federated discovery and sharing of genomic data using Beacons
Federated discovery and sharing of genomic data using Beacons Open
M.F. and S.O.M.D. are supported by Genome Quebec, Genome Canada, the Government of Canada, and the Ministère de l’Économie, Innovation et Exportation du Québec (Can-SHARE grant 141210); S.O.M.D. is supported by the Canadian Institutes of H…
View article: Registered access: authorizing data access
Registered access: authorizing data access Open
View article: Simplifying research access to genomics and health data with Library Cards
Simplifying research access to genomics and health data with Library Cards Open
The volume of genomics and health data is growing rapidly, driven by sequencing for both research and clinical use. However, under current practices, the data is fragmented into many distinct datasets, and researchers must go through a sep…
View article: The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants Open
Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically rele…
View article: Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) Open
View article: Consent Codes: Upholding Standard Data Use Conditions
Consent Codes: Upholding Standard Data Use Conditions Open
A systematic way of recording data use conditions that are based on consent permissions as found in the datasets of the main public genome archives (NCBI dbGaP and EMBL-EBI/CRG EGA).
View article: System for Interpretation of Personal Genomes
System for Interpretation of Personal Genomes Open
Genomics is undergoing a revolution sparked by higher throughput and cost effective DNA sequencing technologies. Sequencing has become a ubiquitous tool with varied inputs, scopes, techniques, technologies, and purposes.\tThere is potentia…