User profiles for Marc Fiume
 | Marc FiumeUniversity of Toronto Verified email at cs.toronto.edu Cited by 3992 |
Similarity network fusion for aggregating data types on a genomic scale
Recent technologies have made it cost-effective to collect diverse types of genome-wide
data. Computational methods are needed to combine these data to create a comprehensive …
data. Computational methods are needed to combine these data to create a comprehensive …
SHRiMP: accurate mapping of short color-space reads
The development of Next Generation Sequencing technologies, capable of sequencing
hundreds of millions of short reads (25–70 bp each) in a single run, is opening the door to …
hundreds of millions of short reads (25–70 bp each) in a single run, is opening the door to …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …
[PDF][PDF] GA4GH: International policies and standards for data sharing across genomic research and healthcare
…, KA Fakhro, HV Firth, MS Fitzsimons, M Fiume… - Cell genomics, 2021 - cell.com
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical
advances by enabling the responsible sharing of clinical and genomic data through both …
advances by enabling the responsible sharing of clinical and genomic data through both …
P heno t ips: Patient phenotyping software for clinical and research use
M Girdea, S Dumitriu, M Fiume, S Bowdin… - Human …, 2013 - Wiley Online Library
We have developed P heno T ips: open source software for collecting and analyzing
phenotypic information for patients with genetic disorders. Our software combines an easy‐to‐use …
phenotypic information for patients with genetic disorders. Our software combines an easy‐to‐use …
Detecting copy number variation with mated short reads
The development of high-throughput sequencing (HTS) technologies has opened the door
to novel methods for detecting copy number variants (CNVs) in the human genome. While in …
to novel methods for detecting copy number variants (CNVs) in the human genome. While in …
iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data
High-throughput RNA sequencing (RNA-seq) promises to revolutionize our understanding
of genes and their role in human disease by characterizing the RNA content of tissues and …
of genes and their role in human disease by characterizing the RNA content of tissues and …
Savant: genome browser for high-throughput sequencing data
Motivation: The advent of high-throughput sequencing (HTS) technologies has made it affordable
to sequence many individuals' genomes. Simultaneously the computational analysis of …
to sequence many individuals' genomes. Simultaneously the computational analysis of …
Federated discovery and sharing of genomic data using Beacons
Cost & Value of Medicines https://www. phrma. org/report/prescription-medicines-costs-in-context
(2016). 2. Greenwood, JUS drug costs must be weighed against benefits. Bloomberg …
(2016). 2. Greenwood, JUS drug costs must be weighed against benefits. Bloomberg …
Consent codes: upholding standard data use conditions
Consent Codes: Upholding Standard Data Use Conditions | PLOS Genetics Skip to main
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