Author

Tam P. Sneddon

Stanford Health CareORCID 0000-0003-1137-8992Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Adam H. BuchananiD· 1 shared Alan F. ScottiD· 1 shared Avni SantaniiD· 1 shared Bryce A. SeifertiD· 1 shared Christa Lese MartiniD· 1 shared Christine C. Lambert· 1 shared Daryl M. WaggottiD· 1 shared

Activity by Year

2017-2017 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenomics

Aaron M. WengerORCID

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2 papers

Recent·Most cited

GenomicsGenetics in MedicinePeer-reviewedJun 22, 2017

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

Jason D. Merker, Aaron M. Wenger, Tam P. Sneddon…·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.

252 citationstop 1%

humanwhole-genome sequencing

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GeneticsThe American Journal of Human GeneticsPeer-reviewedMay 25, 2017

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan…·Jonathan S. Berg

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.

573 citationstop 1%

statistical modelbenchmarking

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