Author

Joseph T. Alaimo

Children's Mercy HospitalORCID 0000-0002-1193-4701Unclaimed 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:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Organism:human· 1 Assay:long-read sequencing· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ana S.A. CoheniD· 2 shared Carol SaundersiD· 2 shared Isabelle ThiffaultiD· 2 shared Aaron M. WengeriD· 1 shared Adam M. Walter· 1 shared Ahmed T. AbdelmoityiD· 1 shared Amanda Thomas‐WilsoniD· 1 shared Ann C. ModrciniD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ana S.A. CohenORCID

Mutual co-authors in cluster

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2 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

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan Manickavasagam Amudhavalli, John T. Anderson, Lalit R. Bansal, Lauren E. Bartik, Primo A. Baybayan, Bradley Belden, Courtney Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion J. Buske, Shreyasee Chakraborty, , Tomi Pastinen

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

Genetics in Medicine · Mar 16, 2022Peer-reviewedGenetic & Genomic Medicine