Author

Toby Bloom

New York Genome Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 4 Research Focus:benchmarking· 3 Research Focus:database / resource· 3 Assay:GWAS summary statistics· 2 Organism:human· 2 Assay:whole-genome sequencing· 2 Assay:electronic health records· 1 Assay:proteomics· 1

Frequent Co-Authors

Christian StolteiD· 3 shared John M. GreallyiD· 3 shared Avinash AbhyankariD· 2 shared Bruce D. GelbiD· 2 shared Carol R. HorowitziD· 2 shared Eimear E. KennyiD· 2 shared Gabrielle BertieriD· 2 shared George A. DíaziD· 2 shared

Activity by Year

2018-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Christian StolteORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

GenomeDiver: A platform for phenotype-guided medical genomic diagnosis.

Nathaniel Michael Pearson, Christian Stolte, Kevin Y. Shi, Faygel Beren, Noura S. Abul‐Husn, Gabrielle Bertier, Kaitlyn M. Brown, George A. Díaz, Jacqueline A. Odgis, Sabrina A. Suckiel, Carol R. Horowitz, Melissa Wasserstein, Bruce D. Gelb, Eimear E. Kenny, Charles Gagnon, , John M. Greally

GenomeDiver improves genomic diagnosis by enabling clinicians to input structured phenotypic data to guide gene prioritization and enhance collaboration with diagnostic labs.

Genetics in Medicine · Jun 10, 2021Peer-reviewedGenetic & Genomic Medicine

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Bonini, Michelle A. Ramos, Nicole Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn M. Brown, Lena Fielding, Jessenia Lopez, Karla López Aguiñiga, Estefany María, Jessica Rodriguez, Monisha Sebastin, , Eimear E. Kenny

The NYCKidSeq project evaluates the clinical utility and communication of genomic testing in diverse children through a randomized controlled trial.

Trials · Jan 14, 2021Peer-reviewedGenetic & Genomic Medicine

MetroNome - a visual data exploration platform for integrating human genotypic and phenotypic data across diseases

Christian Stolte, Kevin Y. Shi, Nina Lapchyk, Nathaniel Novod, Avinash Abhyankar, Lyle W. Ostrow, Hemali P. Phatnani, Toby Bloom

MetroNome integrates human genotypic and phenotypic data across diseases for hypothesis generation and analysis.

bioRxiv · Sep 14, 2019 · PreprintBioinformatics

WHOLE GENOME BISULPHITE SEQUENCING USING THE ILLUMINA HISEQ X SYSTEM

Masako Suzuki, Will Liao, Frank Wos, Andrew D. Johnston, Justin DeGrazia, Jennifer K. Ishii, Toby Bloom, Michael C. Zody, Søren Germer, John M. Greally

The paper optimizes library preparation and sequencing for whole genome bisulphite sequencing on the Illumina HiSeq X system, eliminating an artefact affecting several percent of reads.

Genome Research · Sep 1, 2018Peer-reviewedGenomics