Author

Karine Hovanes

CombiMatrix

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

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Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aditi Chawla· 1 shared Alicia ScocchiaiD· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared Amirah Khouzam· 1 shared Andrew M. GrossiD· 1 shared Bryan R. LajoieiD· 1 shared Carolyn M. BrowniD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Aditi Chawla

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1 paper

Recent·Most cited

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista K. Bluske, Nicole C. Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, , Ryan J. Taft

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.

Genetics in Medicine · Oct 3, 2018Peer-reviewedGenomics