Author

Kalotina Machini

Brigham and Women's HospitalORCID 0000-0002-1134-2829Unclaimed 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· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Carrie L. Blout ZawatskyiD· 2 shared Heidi L. RehmiD· 2 shared Matthew S. LeboiD· 2 shared Robert C. GreeniD· 2 shared Christina Anne Austin-TseiD· 1 shared Christopher Koch· 1 shared Elizabeth W. KarlsoniD· 1 shared Emma F. PereziD· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Carrie L. Blout ZawatskyORCID

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2 papers

Recent·Most cited

Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization

Carrie L. Blout Zawatsky, Nidhi D Shah, Kalotina Machini, Emma F. Perez, Kurt Derek Christensen, Hana Zouk, Marcie A. Steeves, Christopher Koch, Melissa Kurtz Uveges, Janelle Shea, Nina B. Gold, Joel B. Krier, Natalie Boutin, Lisa Mahanta, Heidi L. Rehm, , Robert C. Green

This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.

The American Journal of Human Genetics · Nov 8, 2021Peer-reviewedGenetic & Genomic Medicine

A Framework for Automated Gene Selection in Genomic Screening

Lorena Lazo de la Vega, W. Yu, Kalotina Machini, Christina Anne Austin-Tse, Lingtong Hao, Carrie L. Blout Zawatsky, Heather Mason‐Suares, Robert C. Green, Heidi L. Rehm, Matthew S. Lebo

This paper proposes a framework for automated gene selection in genomic screening, creating gene lists with strong disease associations and demonstrating their utility in healthy genome screening.

Genetics in Medicine · Jun 10, 2021Peer-reviewedGenetic & Genomic Medicine