Author

Ghunwa A. Nakouzi

HudsonAlpha Institute for BiotechnologyORCID 0000-0002-0192-8519Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Assay:whole-genome sequencing· 3 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Approach:machine learning (classical)· 1 Organism:mouse· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Melissa KellyiD· 3 shared James HoltiD· 2 shared Amanda Thomas‐WilsoniD· 1 shared Ana S.A. CoheniD· 1 shared Anna C.E. Hurst· 1 shared Anna SzutoiD· 1 shared Brett Sundlof· 1 shared Brittany C. ThomasiD· 1 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Melissa KellyORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter D. Best, Rhonda C. Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Y. Chen, Jacob Clifford, Ana S.A. Cohen, Laura Kathleen Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, , Stephen Francis Kingsmore

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

Genetics in Medicine · Jul 30, 2023Peer-reviewedGenetic & Genomic Medicine

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

Stephanie A. Felker, James M.J. Lawlor, Susan M. Hiatt, Michelle L. Thompson, Donald R. Latner, Candice R. Finnila, Kevin M. Bowling, Zachary T Bonnstetter, Katherine E. Bonini, Nicole Kelly, Whitley V. Kelley, Anna C.E. Hurst, Salman Rashid, Melissa Kelly, Ghunwa A. Nakouzi, , Gregory M. Cooper

The paper identifies clinically relevant variants in poison exons (PEs) that improve diagnostic yield for neurodevelopmental disorders by uncovering variants previously overlooked in standard analyses.

Genetics in Medicine · May 6, 2023Peer-reviewedGenetics

Reducing Sanger Confirmation Testing through False Positive Prediction Algorithms

James Holt, Melissa Kelly, Brett Sundlof, Ghunwa A. Nakouzi, David P Bick, Elaine Lyon

This study uses machine learning to predict false positive variants in clinical genome sequencing, reducing the need for confirmatory Sanger testing by 78.22%.

Genetics in Medicine · Mar 25, 2021Peer-reviewedBioinformatics