Author

Michael I. Kennemer

Invitae (United States)

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· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

ANDREW P. FELLOWESiD· 1 shared Brian H. ShirtsiD· 1 shared Catherine Huang· 1 shared Eric W. KleeiD· 1 shared Farol L. Tomson· 1 shared Justin M. ZookiD· 1 shared Kathryn E. HatchelliD· 1 shared Marc SalitiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

ANDREW P. FELLOWESORCID

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1 paper

Recent·Most cited

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Stephen E. Lincoln, Tina M. Hambuch, Justin M. Zook, Sara L. Bristow, Kathryn E. Hatchell, Rebecca Truty, Michael I. Kennemer, Brian H. Shirts, ANDREW P. FELLOWES, Shimul Chowdhury, Eric W. Klee, Shazia Mahamdallie, Megan H. Cleveland, Peter M. Vallone, Yan Ding, , Robert Luke Nussbaum

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

Genetics in Medicine · May 18, 2021Peer-reviewedGenetic & Genomic Medicine