Author

Jason D. Merker

Stanford Health CareORCID 0000-0002-0865-3394Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Organism:C. elegans· 1 Research Focus:database / resource· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Euan Angus AshleyiD· 2 shared Kevin S. SmithiD· 2 shared Laure FrésardiD· 2 shared Matthew Thomas WheeleriD· 2 shared Megan E. GroveiD· 2 shared Sowmi UtirameruriD· 2 shared Stephen B. MontgomeryiD· 2 shared Zachary ZappalaiD· 2 shared

Activity by Year

2017-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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2 shared papersGenomics

Euan Angus AshleyORCID

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Author profile →

3 papers

Recent·Most cited

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

Laure Frésard, Craig Smail, Kevin S. Smith, Nicole M. Ferraro, Nicole A. Teran, Kristin D. Kernohan, Devon E. Bonner, Xin Li, Shruti Marwaha, Zachary Zappala, Brunilda Balliu, Joe R. Davis, Boxiang Liu, Cameron J. Prybol, Jennefer N. Kohler, , Stephen B. Montgomery

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

bioRxiv · Sep 4, 2018 · PreprintGenomics

Beyond The Linear Genome: Comprehensive Determination Of The Endogenous Circular Elements In C. elegans And Human Genomes Via An Unbiased Genomic-Biophysical Method

Massa J. Shoura, Idan Gabdank, Loren L Hansen, Jason D. Merker, Jason R. Gotlib, Stephen D. Levene, Andrew Z. Fire

The paper identifies and characterizes endogenous circular DNA (eccDNA) in C. elegans and human cells using unbiased methods, showing eccDNA originates from both coding and noncoding regions.

G3 Genes Genomes Genetics · Aug 11, 2017Peer-reviewedGenomics

Long-read whole genome sequencing identifies causal structural variation in a Mendelian disease

Jason D. Merker, Aaron M. Wenger, Tam P. Sneddon, Megan E. Grove, Zachary Zappala, Laure Frésard, Daryl M. Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S. Smith, Stephen B. Montgomery, Matthew Thomas Wheeler, Jillian G. Buchan, Christine C. Lambert, Kevin Eng, , Euan Angus Ashley

The paper uses long-read whole genome sequencing to identify a pathogenic structural variant in a patient with Carney complex, demonstrating the potential of LRS in diagnosing Mendelian diseases.

Genetics in Medicine · Jun 22, 2017Peer-reviewedGenomics